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NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Dec 6, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000048545.16

Allele description [Variation Report for NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs)]

NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs)
Other names:
4510delCTAinsTT
HGVS:
  • NC_000017.11:g.43076579_43076581delinsAA
  • NG_005905.2:g.141403_141405delinsTT
  • NM_001407571.1:c.4178_4180delCTAinsTT
  • NM_001407581.1:c.4457_4459delCTAinsTT
  • NM_001407582.1:c.4457_4459delCTAinsTT
  • NM_001407583.1:c.4454_4456delCTAinsTT
  • NM_001407585.1:c.4454_4456delCTAinsTT
  • NM_001407587.1:c.4454_4456delCTAinsTT
  • NM_001407590.1:c.4451_4453delCTAinsTT
  • NM_001407591.1:c.4451_4453delCTAinsTT
  • NM_001407593.1:c.4391_4393delCTAinsTT
  • NM_001407594.1:c.4391_4393delCTAinsTT
  • NM_001407596.1:c.4391_4393delCTAinsTT
  • NM_001407597.1:c.4391_4393delCTAinsTT
  • NM_001407598.1:c.4391_4393delCTAinsTT
  • NM_001407602.1:c.4391_4393delCTAinsTT
  • NM_001407603.1:c.4391_4393delCTAinsTT
  • NM_001407605.1:c.4391_4393delCTAinsTT
  • NM_001407610.1:c.4388_4390delCTAinsTT
  • NM_001407611.1:c.4388_4390delCTAinsTT
  • NM_001407612.1:c.4388_4390delCTAinsTT
  • NM_001407613.1:c.4388_4390delCTAinsTT
  • NM_001407614.1:c.4388_4390delCTAinsTT
  • NM_001407615.1:c.4388_4390delCTAinsTT
  • NM_001407616.1:c.4388_4390delCTAinsTT
  • NM_001407617.1:c.4388_4390delCTAinsTT
  • NM_001407618.1:c.4388_4390delCTAinsTT
  • NM_001407619.1:c.4388_4390delCTAinsTT
  • NM_001407620.1:c.4388_4390delCTAinsTT
  • NM_001407621.1:c.4388_4390delCTAinsTT
  • NM_001407622.1:c.4388_4390delCTAinsTT
  • NM_001407623.1:c.4388_4390delCTAinsTT
  • NM_001407624.1:c.4388_4390delCTAinsTT
  • NM_001407625.1:c.4388_4390delCTAinsTT
  • NM_001407626.1:c.4388_4390delCTAinsTT
  • NM_001407627.1:c.4385_4387delCTAinsTT
  • NM_001407628.1:c.4385_4387delCTAinsTT
  • NM_001407629.1:c.4385_4387delCTAinsTT
  • NM_001407630.1:c.4385_4387delCTAinsTT
  • NM_001407631.1:c.4385_4387delCTAinsTT
  • NM_001407632.1:c.4385_4387delCTAinsTT
  • NM_001407633.1:c.4385_4387delCTAinsTT
  • NM_001407634.1:c.4385_4387delCTAinsTT
  • NM_001407635.1:c.4385_4387delCTAinsTT
  • NM_001407636.1:c.4385_4387delCTAinsTT
  • NM_001407637.1:c.4385_4387delCTAinsTT
  • NM_001407638.1:c.4385_4387delCTAinsTT
  • NM_001407639.1:c.4385_4387delCTAinsTT
  • NM_001407640.1:c.4385_4387delCTAinsTT
  • NM_001407641.1:c.4385_4387delCTAinsTT
  • NM_001407642.1:c.4385_4387delCTAinsTT
  • NM_001407644.1:c.4382_4384delCTAinsTT
  • NM_001407645.1:c.4382_4384delCTAinsTT
  • NM_001407646.1:c.4379_4381delCTAinsTT
  • NM_001407647.1:c.4376_4378delCTAinsTT
  • NM_001407648.1:c.4334_4336delCTAinsTT
  • NM_001407649.1:c.4331_4333delCTAinsTT
  • NM_001407652.1:c.4391_4393delCTAinsTT
  • NM_001407653.1:c.4313_4315delCTAinsTT
  • NM_001407654.1:c.4313_4315delCTAinsTT
  • NM_001407655.1:c.4313_4315delCTAinsTT
  • NM_001407656.1:c.4310_4312delCTAinsTT
  • NM_001407657.1:c.4310_4312delCTAinsTT
  • NM_001407658.1:c.4310_4312delCTAinsTT
  • NM_001407659.1:c.4307_4309delCTAinsTT
  • NM_001407660.1:c.4307_4309delCTAinsTT
  • NM_001407661.1:c.4307_4309delCTAinsTT
  • NM_001407662.1:c.4307_4309delCTAinsTT
  • NM_001407663.1:c.4307_4309delCTAinsTT
  • NM_001407664.1:c.4268_4270delCTAinsTT
  • NM_001407665.1:c.4268_4270delCTAinsTT
  • NM_001407666.1:c.4268_4270delCTAinsTT
  • NM_001407667.1:c.4268_4270delCTAinsTT
  • NM_001407668.1:c.4268_4270delCTAinsTT
  • NM_001407669.1:c.4268_4270delCTAinsTT
  • NM_001407670.1:c.4265_4267delCTAinsTT
  • NM_001407671.1:c.4265_4267delCTAinsTT
  • NM_001407672.1:c.4265_4267delCTAinsTT
  • NM_001407673.1:c.4265_4267delCTAinsTT
  • NM_001407674.1:c.4265_4267delCTAinsTT
  • NM_001407675.1:c.4265_4267delCTAinsTT
  • NM_001407676.1:c.4265_4267delCTAinsTT
  • NM_001407677.1:c.4265_4267delCTAinsTT
  • NM_001407678.1:c.4265_4267delCTAinsTT
  • NM_001407679.1:c.4265_4267delCTAinsTT
  • NM_001407680.1:c.4265_4267delCTAinsTT
  • NM_001407681.1:c.4262_4264delCTAinsTT
  • NM_001407682.1:c.4262_4264delCTAinsTT
  • NM_001407683.1:c.4262_4264delCTAinsTT
  • NM_001407684.1:c.4391_4393delCTAinsTT
  • NM_001407685.1:c.4262_4264delCTAinsTT
  • NM_001407686.1:c.4262_4264delCTAinsTT
  • NM_001407687.1:c.4262_4264delCTAinsTT
  • NM_001407688.1:c.4262_4264delCTAinsTT
  • NM_001407689.1:c.4262_4264delCTAinsTT
  • NM_001407690.1:c.4259_4261delCTAinsTT
  • NM_001407691.1:c.4259_4261delCTAinsTT
  • NM_001407692.1:c.4250_4252delCTAinsTT
  • NM_001407694.1:c.4250_4252delCTAinsTT
  • NM_001407695.1:c.4250_4252delCTAinsTT
  • NM_001407696.1:c.4250_4252delCTAinsTT
  • NM_001407697.1:c.4250_4252delCTAinsTT
  • NM_001407698.1:c.4250_4252delCTAinsTT
  • NM_001407724.1:c.4250_4252delCTAinsTT
  • NM_001407725.1:c.4250_4252delCTAinsTT
  • NM_001407726.1:c.4250_4252delCTAinsTT
  • NM_001407727.1:c.4250_4252delCTAinsTT
  • NM_001407728.1:c.4250_4252delCTAinsTT
  • NM_001407729.1:c.4250_4252delCTAinsTT
  • NM_001407730.1:c.4250_4252delCTAinsTT
  • NM_001407731.1:c.4250_4252delCTAinsTT
  • NM_001407732.1:c.4247_4249delCTAinsTT
  • NM_001407733.1:c.4247_4249delCTAinsTT
  • NM_001407734.1:c.4247_4249delCTAinsTT
  • NM_001407735.1:c.4247_4249delCTAinsTT
  • NM_001407736.1:c.4247_4249delCTAinsTT
  • NM_001407737.1:c.4247_4249delCTAinsTT
  • NM_001407738.1:c.4247_4249delCTAinsTT
  • NM_001407739.1:c.4247_4249delCTAinsTT
  • NM_001407740.1:c.4247_4249delCTAinsTT
  • NM_001407741.1:c.4247_4249delCTAinsTT
  • NM_001407742.1:c.4247_4249delCTAinsTT
  • NM_001407743.1:c.4247_4249delCTAinsTT
  • NM_001407744.1:c.4247_4249delCTAinsTT
  • NM_001407745.1:c.4247_4249delCTAinsTT
  • NM_001407746.1:c.4247_4249delCTAinsTT
  • NM_001407747.1:c.4247_4249delCTAinsTT
  • NM_001407748.1:c.4247_4249delCTAinsTT
  • NM_001407749.1:c.4247_4249delCTAinsTT
  • NM_001407750.1:c.4247_4249delCTAinsTT
  • NM_001407751.1:c.4247_4249delCTAinsTT
  • NM_001407752.1:c.4247_4249delCTAinsTT
  • NM_001407838.1:c.4244_4246delCTAinsTT
  • NM_001407839.1:c.4244_4246delCTAinsTT
  • NM_001407841.1:c.4244_4246delCTAinsTT
  • NM_001407842.1:c.4244_4246delCTAinsTT
  • NM_001407843.1:c.4244_4246delCTAinsTT
  • NM_001407844.1:c.4244_4246delCTAinsTT
  • NM_001407845.1:c.4244_4246delCTAinsTT
  • NM_001407846.1:c.4244_4246delCTAinsTT
  • NM_001407847.1:c.4244_4246delCTAinsTT
  • NM_001407848.1:c.4244_4246delCTAinsTT
  • NM_001407849.1:c.4244_4246delCTAinsTT
  • NM_001407850.1:c.4244_4246delCTAinsTT
  • NM_001407851.1:c.4244_4246delCTAinsTT
  • NM_001407852.1:c.4244_4246delCTAinsTT
  • NM_001407853.1:c.4244_4246delCTAinsTT
  • NM_001407854.1:c.4391_4393delCTAinsTT
  • NM_001407858.1:c.4388_4390delCTAinsTT
  • NM_001407859.1:c.4388_4390delCTAinsTT
  • NM_001407860.1:c.4388_4390delCTAinsTT
  • NM_001407861.1:c.4385_4387delCTAinsTT
  • NM_001407862.1:c.4190_4192delCTAinsTT
  • NM_001407863.1:c.4265_4267delCTAinsTT
  • NM_001407874.1:c.4184_4186delCTAinsTT
  • NM_001407875.1:c.4184_4186delCTAinsTT
  • NM_001407879.1:c.4181_4183delCTAinsTT
  • NM_001407881.1:c.4181_4183delCTAinsTT
  • NM_001407882.1:c.4181_4183delCTAinsTT
  • NM_001407884.1:c.4181_4183delCTAinsTT
  • NM_001407885.1:c.4181_4183delCTAinsTT
  • NM_001407886.1:c.4181_4183delCTAinsTT
  • NM_001407887.1:c.4181_4183delCTAinsTT
  • NM_001407889.1:c.4181_4183delCTAinsTT
  • NM_001407894.1:c.4178_4180delCTAinsTT
  • NM_001407895.1:c.4178_4180delCTAinsTT
  • NM_001407896.1:c.4178_4180delCTAinsTT
  • NM_001407897.1:c.4178_4180delCTAinsTT
  • NM_001407898.1:c.4178_4180delCTAinsTT
  • NM_001407899.1:c.4178_4180delCTAinsTT
  • NM_001407900.1:c.4178_4180delCTAinsTT
  • NM_001407902.1:c.4178_4180delCTAinsTT
  • NM_001407904.1:c.4178_4180delCTAinsTT
  • NM_001407906.1:c.4178_4180delCTAinsTT
  • NM_001407907.1:c.4178_4180delCTAinsTT
  • NM_001407908.1:c.4178_4180delCTAinsTT
  • NM_001407909.1:c.4178_4180delCTAinsTT
  • NM_001407910.1:c.4178_4180delCTAinsTT
  • NM_001407915.1:c.4175_4177delCTAinsTT
  • NM_001407916.1:c.4175_4177delCTAinsTT
  • NM_001407917.1:c.4175_4177delCTAinsTT
  • NM_001407918.1:c.4175_4177delCTAinsTT
  • NM_001407919.1:c.4268_4270delCTAinsTT
  • NM_001407920.1:c.4127_4129delCTAinsTT
  • NM_001407921.1:c.4127_4129delCTAinsTT
  • NM_001407922.1:c.4127_4129delCTAinsTT
  • NM_001407923.1:c.4127_4129delCTAinsTT
  • NM_001407924.1:c.4127_4129delCTAinsTT
  • NM_001407925.1:c.4127_4129delCTAinsTT
  • NM_001407926.1:c.4127_4129delCTAinsTT
  • NM_001407927.1:c.4124_4126delCTAinsTT
  • NM_001407928.1:c.4124_4126delCTAinsTT
  • NM_001407929.1:c.4124_4126delCTAinsTT
  • NM_001407930.1:c.4124_4126delCTAinsTT
  • NM_001407931.1:c.4124_4126delCTAinsTT
  • NM_001407932.1:c.4124_4126delCTAinsTT
  • NM_001407933.1:c.4124_4126delCTAinsTT
  • NM_001407934.1:c.4121_4123delCTAinsTT
  • NM_001407935.1:c.4121_4123delCTAinsTT
  • NM_001407936.1:c.4121_4123delCTAinsTT
  • NM_001407937.1:c.4268_4270delCTAinsTT
  • NM_001407938.1:c.4268_4270delCTAinsTT
  • NM_001407939.1:c.4265_4267delCTAinsTT
  • NM_001407940.1:c.4265_4267delCTAinsTT
  • NM_001407941.1:c.4262_4264delCTAinsTT
  • NM_001407942.1:c.4250_4252delCTAinsTT
  • NM_001407943.1:c.4247_4249delCTAinsTT
  • NM_001407944.1:c.4247_4249delCTAinsTT
  • NM_001407945.1:c.4247_4249delCTAinsTT
  • NM_001407946.1:c.4058_4060delCTAinsTT
  • NM_001407947.1:c.4058_4060delCTAinsTT
  • NM_001407948.1:c.4058_4060delCTAinsTT
  • NM_001407949.1:c.4058_4060delCTAinsTT
  • NM_001407950.1:c.4055_4057delCTAinsTT
  • NM_001407951.1:c.4055_4057delCTAinsTT
  • NM_001407952.1:c.4055_4057delCTAinsTT
  • NM_001407953.1:c.4055_4057delCTAinsTT
  • NM_001407954.1:c.4055_4057delCTAinsTT
  • NM_001407955.1:c.4055_4057delCTAinsTT
  • NM_001407956.1:c.4052_4054delCTAinsTT
  • NM_001407957.1:c.4052_4054delCTAinsTT
  • NM_001407958.1:c.4052_4054delCTAinsTT
  • NM_001407959.1:c.4010_4012delCTAinsTT
  • NM_001407960.1:c.4007_4009delCTAinsTT
  • NM_001407962.1:c.4007_4009delCTAinsTT
  • NM_001407963.1:c.4004_4006delCTAinsTT
  • NM_001407965.1:c.3884_3886delCTAinsTT
  • NM_001407966.1:c.3503_3505delCTAinsTT
  • NM_001407967.1:c.3500_3502delCTAinsTT
  • NM_001407968.1:c.1787_1789delCTAinsTT
  • NM_001407969.1:c.1784_1786delCTAinsTT
  • NM_001407970.1:c.1148_1150delCTAinsTT
  • NM_001407971.1:c.1148_1150delCTAinsTT
  • NM_001407972.1:c.1145_1147delCTAinsTT
  • NM_001407973.1:c.1082_1084delCTAinsTT
  • NM_001407974.1:c.1082_1084delCTAinsTT
  • NM_001407975.1:c.1082_1084delCTAinsTT
  • NM_001407976.1:c.1082_1084delCTAinsTT
  • NM_001407977.1:c.1082_1084delCTAinsTT
  • NM_001407978.1:c.1082_1084delCTAinsTT
  • NM_001407979.1:c.1079_1081delCTAinsTT
  • NM_001407980.1:c.1079_1081delCTAinsTT
  • NM_001407981.1:c.1079_1081delCTAinsTT
  • NM_001407982.1:c.1079_1081delCTAinsTT
  • NM_001407983.1:c.1079_1081delCTAinsTT
  • NM_001407984.1:c.1079_1081delCTAinsTT
  • NM_001407985.1:c.1079_1081delCTAinsTT
  • NM_001407986.1:c.1079_1081delCTAinsTT
  • NM_001407990.1:c.1079_1081delCTAinsTT
  • NM_001407991.1:c.1079_1081delCTAinsTT
  • NM_001407992.1:c.1079_1081delCTAinsTT
  • NM_001407993.1:c.1079_1081delCTAinsTT
  • NM_001408392.1:c.1076_1078delCTAinsTT
  • NM_001408396.1:c.1076_1078delCTAinsTT
  • NM_001408397.1:c.1076_1078delCTAinsTT
  • NM_001408398.1:c.1076_1078delCTAinsTT
  • NM_001408399.1:c.1076_1078delCTAinsTT
  • NM_001408400.1:c.1076_1078delCTAinsTT
  • NM_001408401.1:c.1076_1078delCTAinsTT
  • NM_001408402.1:c.1076_1078delCTAinsTT
  • NM_001408403.1:c.1076_1078delCTAinsTT
  • NM_001408404.1:c.1076_1078delCTAinsTT
  • NM_001408406.1:c.1073_1075delCTAinsTT
  • NM_001408407.1:c.1073_1075delCTAinsTT
  • NM_001408408.1:c.1073_1075delCTAinsTT
  • NM_001408409.1:c.1070_1072delCTAinsTT
  • NM_001408410.1:c.1007_1009delCTAinsTT
  • NM_001408411.1:c.1004_1006delCTAinsTT
  • NM_001408412.1:c.1001_1003delCTAinsTT
  • NM_001408413.1:c.1001_1003delCTAinsTT
  • NM_001408414.1:c.1001_1003delCTAinsTT
  • NM_001408415.1:c.1001_1003delCTAinsTT
  • NM_001408416.1:c.1001_1003delCTAinsTT
  • NM_001408418.1:c.965_967delCTAinsTT
  • NM_001408419.1:c.965_967delCTAinsTT
  • NM_001408420.1:c.965_967delCTAinsTT
  • NM_001408421.1:c.962_964delCTAinsTT
  • NM_001408422.1:c.962_964delCTAinsTT
  • NM_001408423.1:c.962_964delCTAinsTT
  • NM_001408424.1:c.962_964delCTAinsTT
  • NM_001408425.1:c.959_961delCTAinsTT
  • NM_001408426.1:c.959_961delCTAinsTT
  • NM_001408427.1:c.959_961delCTAinsTT
  • NM_001408428.1:c.959_961delCTAinsTT
  • NM_001408429.1:c.959_961delCTAinsTT
  • NM_001408430.1:c.959_961delCTAinsTT
  • NM_001408431.1:c.959_961delCTAinsTT
  • NM_001408432.1:c.956_958delCTAinsTT
  • NM_001408433.1:c.956_958delCTAinsTT
  • NM_001408434.1:c.956_958delCTAinsTT
  • NM_001408435.1:c.956_958delCTAinsTT
  • NM_001408436.1:c.956_958delCTAinsTT
  • NM_001408437.1:c.956_958delCTAinsTT
  • NM_001408438.1:c.956_958delCTAinsTT
  • NM_001408439.1:c.956_958delCTAinsTT
  • NM_001408440.1:c.956_958delCTAinsTT
  • NM_001408441.1:c.956_958delCTAinsTT
  • NM_001408442.1:c.956_958delCTAinsTT
  • NM_001408443.1:c.956_958delCTAinsTT
  • NM_001408444.1:c.956_958delCTAinsTT
  • NM_001408445.1:c.953_955delCTAinsTT
  • NM_001408446.1:c.953_955delCTAinsTT
  • NM_001408447.1:c.953_955delCTAinsTT
  • NM_001408448.1:c.953_955delCTAinsTT
  • NM_001408450.1:c.953_955delCTAinsTT
  • NM_001408451.1:c.947_949delCTAinsTT
  • NM_001408452.1:c.941_943delCTAinsTT
  • NM_001408453.1:c.941_943delCTAinsTT
  • NM_001408454.1:c.941_943delCTAinsTT
  • NM_001408455.1:c.941_943delCTAinsTT
  • NM_001408456.1:c.941_943delCTAinsTT
  • NM_001408457.1:c.941_943delCTAinsTT
  • NM_001408458.1:c.938_940delCTAinsTT
  • NM_001408459.1:c.938_940delCTAinsTT
  • NM_001408460.1:c.938_940delCTAinsTT
  • NM_001408461.1:c.938_940delCTAinsTT
  • NM_001408462.1:c.938_940delCTAinsTT
  • NM_001408463.1:c.938_940delCTAinsTT
  • NM_001408464.1:c.938_940delCTAinsTT
  • NM_001408465.1:c.938_940delCTAinsTT
  • NM_001408466.1:c.938_940delCTAinsTT
  • NM_001408467.1:c.938_940delCTAinsTT
  • NM_001408468.1:c.935_937delCTAinsTT
  • NM_001408469.1:c.935_937delCTAinsTT
  • NM_001408470.1:c.935_937delCTAinsTT
  • NM_001408472.1:c.1079_1081delCTAinsTT
  • NM_001408473.1:c.1076_1078delCTAinsTT
  • NM_001408474.1:c.881_883delCTAinsTT
  • NM_001408475.1:c.878_880delCTAinsTT
  • NM_001408476.1:c.878_880delCTAinsTT
  • NM_001408478.1:c.872_874delCTAinsTT
  • NM_001408479.1:c.872_874delCTAinsTT
  • NM_001408480.1:c.872_874delCTAinsTT
  • NM_001408481.1:c.869_871delCTAinsTT
  • NM_001408482.1:c.869_871delCTAinsTT
  • NM_001408483.1:c.869_871delCTAinsTT
  • NM_001408484.1:c.869_871delCTAinsTT
  • NM_001408485.1:c.869_871delCTAinsTT
  • NM_001408489.1:c.869_871delCTAinsTT
  • NM_001408490.1:c.869_871delCTAinsTT
  • NM_001408491.1:c.869_871delCTAinsTT
  • NM_001408492.1:c.866_868delCTAinsTT
  • NM_001408493.1:c.866_868delCTAinsTT
  • NM_001408494.1:c.842_844delCTAinsTT
  • NM_001408495.1:c.836_838delCTAinsTT
  • NM_001408496.1:c.818_820delCTAinsTT
  • NM_001408497.1:c.818_820delCTAinsTT
  • NM_001408498.1:c.818_820delCTAinsTT
  • NM_001408499.1:c.818_820delCTAinsTT
  • NM_001408500.1:c.818_820delCTAinsTT
  • NM_001408501.1:c.818_820delCTAinsTT
  • NM_001408502.1:c.815_817delCTAinsTT
  • NM_001408503.1:c.815_817delCTAinsTT
  • NM_001408504.1:c.815_817delCTAinsTT
  • NM_001408505.1:c.812_814delCTAinsTT
  • NM_001408506.1:c.755_757delCTAinsTT
  • NM_001408507.1:c.752_754delCTAinsTT
  • NM_001408508.1:c.743_745delCTAinsTT
  • NM_001408509.1:c.740_742delCTAinsTT
  • NM_001408510.1:c.701_703delCTAinsTT
  • NM_001408511.1:c.698_700delCTAinsTT
  • NM_001408512.1:c.578_580delCTAinsTT
  • NM_007294.4:c.4391_4393delinsTTMANE SELECT
  • NM_007297.4:c.4250_4252delinsTT
  • NM_007298.4:c.1079_1081delCTAinsTT
  • NM_007299.4:c.1079_1081delinsTT
  • NM_007300.4:c.4454_4456delinsTT
  • NM_007304.2:c.1079_1081delCTAinsTT
  • NP_001394500.1:p.Pro1393Leufs
  • NP_001394510.1:p.Pro1486Leufs
  • NP_001394511.1:p.Pro1486Leufs
  • NP_001394512.1:p.Pro1485Leufs
  • NP_001394514.1:p.Pro1485Leufs
  • NP_001394516.1:p.Pro1485Leufs
  • NP_001394519.1:p.Pro1484Leufs
  • NP_001394520.1:p.Pro1484Leufs
  • NP_001394522.1:p.Pro1464Leufs
  • NP_001394523.1:p.Pro1464Leufs
  • NP_001394525.1:p.Pro1464Leufs
  • NP_001394526.1:p.Pro1464Leufs
  • NP_001394527.1:p.Pro1464Leufs
  • NP_001394531.1:p.Pro1464Leufs
  • NP_001394532.1:p.Pro1464Leufs
  • NP_001394534.1:p.Pro1464Leufs
  • NP_001394539.1:p.Pro1463Leufs
  • NP_001394540.1:p.Pro1463Leufs
  • NP_001394541.1:p.Pro1463Leufs
  • NP_001394542.1:p.Pro1463Leufs
  • NP_001394543.1:p.Pro1463Leufs
  • NP_001394544.1:p.Pro1463Leufs
  • NP_001394545.1:p.Pro1463Leufs
  • NP_001394546.1:p.Pro1463Leufs
  • NP_001394547.1:p.Pro1463Leufs
  • NP_001394548.1:p.Pro1463Leufs
  • NP_001394549.1:p.Pro1463Leufs
  • NP_001394550.1:p.Pro1463Leufs
  • NP_001394551.1:p.Pro1463Leufs
  • NP_001394552.1:p.Pro1463Leufs
  • NP_001394553.1:p.Pro1463Leufs
  • NP_001394554.1:p.Pro1463Leufs
  • NP_001394555.1:p.Pro1463Leufs
  • NP_001394556.1:p.Pro1462Leufs
  • NP_001394557.1:p.Pro1462Leufs
  • NP_001394558.1:p.Pro1462Leufs
  • NP_001394559.1:p.Pro1462Leufs
  • NP_001394560.1:p.Pro1462Leufs
  • NP_001394561.1:p.Pro1462Leufs
  • NP_001394562.1:p.Pro1462Leufs
  • NP_001394563.1:p.Pro1462Leufs
  • NP_001394564.1:p.Pro1462Leufs
  • NP_001394565.1:p.Pro1462Leufs
  • NP_001394566.1:p.Pro1462Leufs
  • NP_001394567.1:p.Pro1462Leufs
  • NP_001394568.1:p.Pro1462Leufs
  • NP_001394569.1:p.Pro1462Leufs
  • NP_001394570.1:p.Pro1462Leufs
  • NP_001394571.1:p.Pro1462Leufs
  • NP_001394573.1:p.Pro1461Leufs
  • NP_001394574.1:p.Pro1461Leufs
  • NP_001394575.1:p.Pro1460Leufs
  • NP_001394576.1:p.Pro1459Leufs
  • NP_001394577.1:p.Pro1445Leufs
  • NP_001394578.1:p.Pro1444Leufs
  • NP_001394581.1:p.Pro1464Leufs
  • NP_001394582.1:p.Pro1438Leufs
  • NP_001394583.1:p.Pro1438Leufs
  • NP_001394584.1:p.Pro1438Leufs
  • NP_001394585.1:p.Pro1437Leufs
  • NP_001394586.1:p.Pro1437Leufs
  • NP_001394587.1:p.Pro1437Leufs
  • NP_001394588.1:p.Pro1436Leufs
  • NP_001394589.1:p.Pro1436Leufs
  • NP_001394590.1:p.Pro1436Leufs
  • NP_001394591.1:p.Pro1436Leufs
  • NP_001394592.1:p.Pro1436Leufs
  • NP_001394593.1:p.Pro1423Leufs
  • NP_001394594.1:p.Pro1423Leufs
  • NP_001394595.1:p.Pro1423Leufs
  • NP_001394596.1:p.Pro1423Leufs
  • NP_001394597.1:p.Pro1423Leufs
  • NP_001394598.1:p.Pro1423Leufs
  • NP_001394599.1:p.Pro1422Leufs
  • NP_001394600.1:p.Pro1422Leufs
  • NP_001394601.1:p.Pro1422Leufs
  • NP_001394602.1:p.Pro1422Leufs
  • NP_001394603.1:p.Pro1422Leufs
  • NP_001394604.1:p.Pro1422Leufs
  • NP_001394605.1:p.Pro1422Leufs
  • NP_001394606.1:p.Pro1422Leufs
  • NP_001394607.1:p.Pro1422Leufs
  • NP_001394608.1:p.Pro1422Leufs
  • NP_001394609.1:p.Pro1422Leufs
  • NP_001394610.1:p.Pro1421Leufs
  • NP_001394611.1:p.Pro1421Leufs
  • NP_001394612.1:p.Pro1421Leufs
  • NP_001394613.1:p.Pro1464Leufs
  • NP_001394614.1:p.Pro1421Leufs
  • NP_001394615.1:p.Pro1421Leufs
  • NP_001394616.1:p.Pro1421Leufs
  • NP_001394617.1:p.Pro1421Leufs
  • NP_001394618.1:p.Pro1421Leufs
  • NP_001394619.1:p.Pro1420Leufs
  • NP_001394620.1:p.Pro1420Leufs
  • NP_001394621.1:p.Pro1417Leufs
  • NP_001394623.1:p.Pro1417Leufs
  • NP_001394624.1:p.Pro1417Leufs
  • NP_001394625.1:p.Pro1417Leufs
  • NP_001394626.1:p.Pro1417Leufs
  • NP_001394627.1:p.Pro1417Leufs
  • NP_001394653.1:p.Pro1417Leufs
  • NP_001394654.1:p.Pro1417Leufs
  • NP_001394655.1:p.Pro1417Leufs
  • NP_001394656.1:p.Pro1417Leufs
  • NP_001394657.1:p.Pro1417Leufs
  • NP_001394658.1:p.Pro1417Leufs
  • NP_001394659.1:p.Pro1417Leufs
  • NP_001394660.1:p.Pro1417Leufs
  • NP_001394661.1:p.Pro1416Leufs
  • NP_001394662.1:p.Pro1416Leufs
  • NP_001394663.1:p.Pro1416Leufs
  • NP_001394664.1:p.Pro1416Leufs
  • NP_001394665.1:p.Pro1416Leufs
  • NP_001394666.1:p.Pro1416Leufs
  • NP_001394667.1:p.Pro1416Leufs
  • NP_001394668.1:p.Pro1416Leufs
  • NP_001394669.1:p.Pro1416Leufs
  • NP_001394670.1:p.Pro1416Leufs
  • NP_001394671.1:p.Pro1416Leufs
  • NP_001394672.1:p.Pro1416Leufs
  • NP_001394673.1:p.Pro1416Leufs
  • NP_001394674.1:p.Pro1416Leufs
  • NP_001394675.1:p.Pro1416Leufs
  • NP_001394676.1:p.Pro1416Leufs
  • NP_001394677.1:p.Pro1416Leufs
  • NP_001394678.1:p.Pro1416Leufs
  • NP_001394679.1:p.Pro1416Leufs
  • NP_001394680.1:p.Pro1416Leufs
  • NP_001394681.1:p.Pro1416Leufs
  • NP_001394767.1:p.Pro1415Leufs
  • NP_001394768.1:p.Pro1415Leufs
  • NP_001394770.1:p.Pro1415Leufs
  • NP_001394771.1:p.Pro1415Leufs
  • NP_001394772.1:p.Pro1415Leufs
  • NP_001394773.1:p.Pro1415Leufs
  • NP_001394774.1:p.Pro1415Leufs
  • NP_001394775.1:p.Pro1415Leufs
  • NP_001394776.1:p.Pro1415Leufs
  • NP_001394777.1:p.Pro1415Leufs
  • NP_001394778.1:p.Pro1415Leufs
  • NP_001394779.1:p.Pro1415Leufs
  • NP_001394780.1:p.Pro1415Leufs
  • NP_001394781.1:p.Pro1415Leufs
  • NP_001394782.1:p.Pro1415Leufs
  • NP_001394783.1:p.Pro1464Leufs
  • NP_001394787.1:p.Pro1463Leufs
  • NP_001394788.1:p.Pro1463Leufs
  • NP_001394789.1:p.Pro1463Leufs
  • NP_001394790.1:p.Pro1462Leufs
  • NP_001394791.1:p.Pro1397Leufs
  • NP_001394792.1:p.Pro1422Leufs
  • NP_001394803.1:p.Pro1395Leufs
  • NP_001394804.1:p.Pro1395Leufs
  • NP_001394808.1:p.Pro1394Leufs
  • NP_001394810.1:p.Pro1394Leufs
  • NP_001394811.1:p.Pro1394Leufs
  • NP_001394813.1:p.Pro1394Leufs
  • NP_001394814.1:p.Pro1394Leufs
  • NP_001394815.1:p.Pro1394Leufs
  • NP_001394816.1:p.Pro1394Leufs
  • NP_001394818.1:p.Pro1394Leufs
  • NP_001394823.1:p.Pro1393Leufs
  • NP_001394824.1:p.Pro1393Leufs
  • NP_001394825.1:p.Pro1393Leufs
  • NP_001394826.1:p.Pro1393Leufs
  • NP_001394827.1:p.Pro1393Leufs
  • NP_001394828.1:p.Pro1393Leufs
  • NP_001394829.1:p.Pro1393Leufs
  • NP_001394831.1:p.Pro1393Leufs
  • NP_001394833.1:p.Pro1393Leufs
  • NP_001394835.1:p.Pro1393Leufs
  • NP_001394836.1:p.Pro1393Leufs
  • NP_001394837.1:p.Pro1393Leufs
  • NP_001394838.1:p.Pro1393Leufs
  • NP_001394839.1:p.Pro1393Leufs
  • NP_001394844.1:p.Pro1392Leufs
  • NP_001394845.1:p.Pro1392Leufs
  • NP_001394846.1:p.Pro1392Leufs
  • NP_001394847.1:p.Pro1392Leufs
  • NP_001394848.1:p.Pro1423Leufs
  • NP_001394849.1:p.Pro1376Leufs
  • NP_001394850.1:p.Pro1376Leufs
  • NP_001394851.1:p.Pro1376Leufs
  • NP_001394852.1:p.Pro1376Leufs
  • NP_001394853.1:p.Pro1376Leufs
  • NP_001394854.1:p.Pro1376Leufs
  • NP_001394855.1:p.Pro1376Leufs
  • NP_001394856.1:p.Pro1375Leufs
  • NP_001394857.1:p.Pro1375Leufs
  • NP_001394858.1:p.Pro1375Leufs
  • NP_001394859.1:p.Pro1375Leufs
  • NP_001394860.1:p.Pro1375Leufs
  • NP_001394861.1:p.Pro1375Leufs
  • NP_001394862.1:p.Pro1375Leufs
  • NP_001394863.1:p.Pro1374Leufs
  • NP_001394864.1:p.Pro1374Leufs
  • NP_001394865.1:p.Pro1374Leufs
  • NP_001394866.1:p.Pro1423Leufs
  • NP_001394867.1:p.Pro1423Leufs
  • NP_001394868.1:p.Pro1422Leufs
  • NP_001394869.1:p.Pro1422Leufs
  • NP_001394870.1:p.Pro1421Leufs
  • NP_001394871.1:p.Pro1417Leufs
  • NP_001394872.1:p.Pro1416Leufs
  • NP_001394873.1:p.Pro1416Leufs
  • NP_001394874.1:p.Pro1416Leufs
  • NP_001394875.1:p.Pro1353Leufs
  • NP_001394876.1:p.Pro1353Leufs
  • NP_001394877.1:p.Pro1353Leufs
  • NP_001394878.1:p.Pro1353Leufs
  • NP_001394879.1:p.Pro1352Leufs
  • NP_001394880.1:p.Pro1352Leufs
  • NP_001394881.1:p.Pro1352Leufs
  • NP_001394882.1:p.Pro1352Leufs
  • NP_001394883.1:p.Pro1352Leufs
  • NP_001394884.1:p.Pro1352Leufs
  • NP_001394885.1:p.Pro1351Leufs
  • NP_001394886.1:p.Pro1351Leufs
  • NP_001394887.1:p.Pro1351Leufs
  • NP_001394888.1:p.Pro1337Leufs
  • NP_001394889.1:p.Pro1336Leufs
  • NP_001394891.1:p.Pro1336Leufs
  • NP_001394892.1:p.Pro1335Leufs
  • NP_001394894.1:p.Pro1295Leufs
  • NP_001394895.1:p.Pro1168Leufs
  • NP_001394896.1:p.Pro1167Leufs
  • NP_001394897.1:p.Pro596Leufs
  • NP_001394898.1:p.Pro595Leufs
  • NP_001394899.1:p.Pro383Leufs
  • NP_001394900.1:p.Pro383Leufs
  • NP_001394901.1:p.Pro382Leufs
  • NP_001394902.1:p.Pro361Leufs
  • NP_001394903.1:p.Pro361Leufs
  • NP_001394904.1:p.Pro361Leufs
  • NP_001394905.1:p.Pro361Leufs
  • NP_001394906.1:p.Pro361Leufs
  • NP_001394907.1:p.Pro361Leufs
  • NP_001394908.1:p.Pro360Leufs
  • NP_001394909.1:p.Pro360Leufs
  • NP_001394910.1:p.Pro360Leufs
  • NP_001394911.1:p.Pro360Leufs
  • NP_001394912.1:p.Pro360Leufs
  • NP_001394913.1:p.Pro360Leufs
  • NP_001394914.1:p.Pro360Leufs
  • NP_001394915.1:p.Pro360Leufs
  • NP_001394919.1:p.Pro360Leufs
  • NP_001394920.1:p.Pro360Leufs
  • NP_001394921.1:p.Pro360Leufs
  • NP_001394922.1:p.Pro360Leufs
  • NP_001395321.1:p.Pro359Leufs
  • NP_001395325.1:p.Pro359Leufs
  • NP_001395326.1:p.Pro359Leufs
  • NP_001395327.1:p.Pro359Leufs
  • NP_001395328.1:p.Pro359Leufs
  • NP_001395329.1:p.Pro359Leufs
  • NP_001395330.1:p.Pro359Leufs
  • NP_001395331.1:p.Pro359Leufs
  • NP_001395332.1:p.Pro359Leufs
  • NP_001395333.1:p.Pro359Leufs
  • NP_001395335.1:p.Pro358Leufs
  • NP_001395336.1:p.Pro358Leufs
  • NP_001395337.1:p.Pro358Leufs
  • NP_001395338.1:p.Pro357Leufs
  • NP_001395339.1:p.Pro336Leufs
  • NP_001395340.1:p.Pro335Leufs
  • NP_001395341.1:p.Pro334Leufs
  • NP_001395342.1:p.Pro334Leufs
  • NP_001395343.1:p.Pro334Leufs
  • NP_001395344.1:p.Pro334Leufs
  • NP_001395345.1:p.Pro334Leufs
  • NP_001395347.1:p.Pro322Leufs
  • NP_001395348.1:p.Pro322Leufs
  • NP_001395349.1:p.Pro322Leufs
  • NP_001395350.1:p.Pro321Leufs
  • NP_001395351.1:p.Pro321Leufs
  • NP_001395352.1:p.Pro321Leufs
  • NP_001395353.1:p.Pro321Leufs
  • NP_001395354.1:p.Pro320Leufs
  • NP_001395355.1:p.Pro320Leufs
  • NP_001395356.1:p.Pro320Leufs
  • NP_001395357.1:p.Pro320Leufs
  • NP_001395358.1:p.Pro320Leufs
  • NP_001395359.1:p.Pro320Leufs
  • NP_001395360.1:p.Pro320Leufs
  • NP_001395361.1:p.Pro319Leufs
  • NP_001395362.1:p.Pro319Leufs
  • NP_001395363.1:p.Pro319Leufs
  • NP_001395364.1:p.Pro319Leufs
  • NP_001395365.1:p.Pro319Leufs
  • NP_001395366.1:p.Pro319Leufs
  • NP_001395367.1:p.Pro319Leufs
  • NP_001395368.1:p.Pro319Leufs
  • NP_001395369.1:p.Pro319Leufs
  • NP_001395370.1:p.Pro319Leufs
  • NP_001395371.1:p.Pro319Leufs
  • NP_001395372.1:p.Pro319Leufs
  • NP_001395373.1:p.Pro319Leufs
  • NP_001395374.1:p.Pro318Leufs
  • NP_001395375.1:p.Pro318Leufs
  • NP_001395376.1:p.Pro318Leufs
  • NP_001395377.1:p.Pro318Leufs
  • NP_001395379.1:p.Pro318Leufs
  • NP_001395380.1:p.Pro316Leufs
  • NP_001395381.1:p.Pro314Leufs
  • NP_001395382.1:p.Pro314Leufs
  • NP_001395383.1:p.Pro314Leufs
  • NP_001395384.1:p.Pro314Leufs
  • NP_001395385.1:p.Pro314Leufs
  • NP_001395386.1:p.Pro314Leufs
  • NP_001395387.1:p.Pro313Leufs
  • NP_001395388.1:p.Pro313Leufs
  • NP_001395389.1:p.Pro313Leufs
  • NP_001395390.1:p.Pro313Leufs
  • NP_001395391.1:p.Pro313Leufs
  • NP_001395392.1:p.Pro313Leufs
  • NP_001395393.1:p.Pro313Leufs
  • NP_001395394.1:p.Pro313Leufs
  • NP_001395395.1:p.Pro313Leufs
  • NP_001395396.1:p.Pro313Leufs
  • NP_001395397.1:p.Pro312Leufs
  • NP_001395398.1:p.Pro312Leufs
  • NP_001395399.1:p.Pro312Leufs
  • NP_001395401.1:p.Pro360Leufs
  • NP_001395402.1:p.Pro359Leufs
  • NP_001395403.1:p.Pro294Leufs
  • NP_001395404.1:p.Pro293Leufs
  • NP_001395405.1:p.Pro293Leufs
  • NP_001395407.1:p.Pro291Leufs
  • NP_001395408.1:p.Pro291Leufs
  • NP_001395409.1:p.Pro291Leufs
  • NP_001395410.1:p.Pro290Leufs
  • NP_001395411.1:p.Pro290Leufs
  • NP_001395412.1:p.Pro290Leufs
  • NP_001395413.1:p.Pro290Leufs
  • NP_001395414.1:p.Pro290Leufs
  • NP_001395418.1:p.Pro290Leufs
  • NP_001395419.1:p.Pro290Leufs
  • NP_001395420.1:p.Pro290Leufs
  • NP_001395421.1:p.Pro289Leufs
  • NP_001395422.1:p.Pro289Leufs
  • NP_001395423.1:p.Pro281Leufs
  • NP_001395424.1:p.Pro279Leufs
  • NP_001395425.1:p.Pro273Leufs
  • NP_001395426.1:p.Pro273Leufs
  • NP_001395427.1:p.Pro273Leufs
  • NP_001395428.1:p.Pro273Leufs
  • NP_001395429.1:p.Pro273Leufs
  • NP_001395430.1:p.Pro273Leufs
  • NP_001395431.1:p.Pro272Leufs
  • NP_001395432.1:p.Pro272Leufs
  • NP_001395433.1:p.Pro272Leufs
  • NP_001395434.1:p.Pro271Leufs
  • NP_001395435.1:p.Pro252Leufs
  • NP_001395436.1:p.Pro251Leufs
  • NP_001395437.1:p.Pro248Leufs
  • NP_001395438.1:p.Pro247Leufs
  • NP_001395439.1:p.Pro234Leufs
  • NP_001395440.1:p.Pro233Leufs
  • NP_001395441.1:p.Pro193Leufs
  • NP_009225.1:p.Pro1464Leufs
  • NP_009225.1:p.Pro1464fs
  • NP_009228.2:p.Pro1417fs
  • NP_009229.2:p.Pro360Leufs
  • NP_009229.2:p.Pro360fs
  • NP_009230.2:p.Pro360fs
  • NP_009231.2:p.Pro1485fs
  • NP_009235.2:p.Pro360Leufs
  • LRG_292t1:c.4391_4393delCTAinsTT
  • LRG_292:g.141403_141405delinsTT
  • LRG_292p1:p.Pro1464Leufs
  • NC_000017.10:g.41228596_41228598delinsAA
  • NC_000017.10:g.41228596_41228598delinsAA
  • NM_007294.3:c.4391_4393delCTAinsTT
  • NM_007294.3:c.4391_4393delCTAinsTT
  • NM_007298.3:c.1079_1081delinsTT
  • NR_027676.2:n.4568_4570delinsTT
  • U14680.1:n.4510_4512delCTAinsTT
  • p.Pro1464LeufsX2
Nucleotide change:
4510del3insTT
Protein change:
P1417fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 4510&base_change=del CTA ins TT; dbSNP: rs273900730
NCBI 1000 Genomes Browser:
rs273900730
Molecular consequence:
  • NM_001407571.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.4457_4459delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.4457_4459delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.4454_4456delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.4454_4456delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.4454_4456delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.4451_4453delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.4451_4453delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.4391_4393delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.4391_4393delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.4391_4393delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.4391_4393delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.4391_4393delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.4391_4393delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.4391_4393delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.4391_4393delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.4382_4384delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.4382_4384delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.4379_4381delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.4376_4378delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.4334_4336delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.4331_4333delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.4391_4393delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.4313_4315delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.4313_4315delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.4313_4315delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.4310_4312delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.4310_4312delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.4310_4312delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.4307_4309delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.4307_4309delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.4307_4309delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.4307_4309delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.4307_4309delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.4268_4270delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.4268_4270delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.4268_4270delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.4268_4270delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.4268_4270delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.4268_4270delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.4265_4267delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.4265_4267delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.4265_4267delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.4265_4267delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.4265_4267delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.4265_4267delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.4265_4267delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.4265_4267delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.4265_4267delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.4265_4267delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.4265_4267delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.4262_4264delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.4262_4264delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.4262_4264delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.4391_4393delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.4262_4264delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.4262_4264delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.4262_4264delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.4262_4264delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.4262_4264delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.4259_4261delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.4259_4261delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.4391_4393delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.4190_4192delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.4265_4267delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.4184_4186delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.4184_4186delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.4181_4183delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.4181_4183delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.4181_4183delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.4181_4183delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.4181_4183delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.4181_4183delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.4181_4183delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.4181_4183delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.4175_4177delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.4175_4177delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.4175_4177delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.4175_4177delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.4268_4270delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.4127_4129delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.4127_4129delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.4127_4129delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.4127_4129delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.4127_4129delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.4127_4129delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.4127_4129delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.4124_4126delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.4124_4126delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.4124_4126delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.4124_4126delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.4124_4126delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.4124_4126delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.4124_4126delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.4121_4123delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.4121_4123delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.4121_4123delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.4268_4270delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.4268_4270delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.4265_4267delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.4265_4267delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.4262_4264delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.4058_4060delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.4058_4060delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.4058_4060delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.4058_4060delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.4055_4057delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.4055_4057delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.4055_4057delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.4055_4057delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.4055_4057delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.4055_4057delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.4052_4054delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.4052_4054delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.4052_4054delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.4010_4012delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.4007_4009delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.4007_4009delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.4004_4006delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.3884_3886delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.3503_3505delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.3500_3502delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.1787_1789delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.1784_1786delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.1148_1150delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407971.1:c.1148_1150delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407972.1:c.1145_1147delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407973.1:c.1082_1084delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407974.1:c.1082_1084delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407975.1:c.1082_1084delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407976.1:c.1082_1084delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407977.1:c.1082_1084delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407978.1:c.1082_1084delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407979.1:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407980.1:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407981.1:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407982.1:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407983.1:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407984.1:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407985.1:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407986.1:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407990.1:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407991.1:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407992.1:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407993.1:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408392.1:c.1076_1078delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408396.1:c.1076_1078delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408397.1:c.1076_1078delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408398.1:c.1076_1078delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408399.1:c.1076_1078delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408400.1:c.1076_1078delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408401.1:c.1076_1078delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408402.1:c.1076_1078delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408403.1:c.1076_1078delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408404.1:c.1076_1078delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408406.1:c.1073_1075delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408407.1:c.1073_1075delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408408.1:c.1073_1075delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408409.1:c.1070_1072delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408410.1:c.1007_1009delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408411.1:c.1004_1006delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408412.1:c.1001_1003delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408413.1:c.1001_1003delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408414.1:c.1001_1003delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408415.1:c.1001_1003delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408416.1:c.1001_1003delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408418.1:c.965_967delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408419.1:c.965_967delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408420.1:c.965_967delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408421.1:c.962_964delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408422.1:c.962_964delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408423.1:c.962_964delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408424.1:c.962_964delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408425.1:c.959_961delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408426.1:c.959_961delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408427.1:c.959_961delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408428.1:c.959_961delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408429.1:c.959_961delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408430.1:c.959_961delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408431.1:c.959_961delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408432.1:c.956_958delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408433.1:c.956_958delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408434.1:c.956_958delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408435.1:c.956_958delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408436.1:c.956_958delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408437.1:c.956_958delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408438.1:c.956_958delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408439.1:c.956_958delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408440.1:c.956_958delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408441.1:c.956_958delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408442.1:c.956_958delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408443.1:c.956_958delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408444.1:c.956_958delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408445.1:c.953_955delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408446.1:c.953_955delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408447.1:c.953_955delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408448.1:c.953_955delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408450.1:c.953_955delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408451.1:c.947_949delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408452.1:c.941_943delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408453.1:c.941_943delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408454.1:c.941_943delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408455.1:c.941_943delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408456.1:c.941_943delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408457.1:c.941_943delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408458.1:c.938_940delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408459.1:c.938_940delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408460.1:c.938_940delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408461.1:c.938_940delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408462.1:c.938_940delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408463.1:c.938_940delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408464.1:c.938_940delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408465.1:c.938_940delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408466.1:c.938_940delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408467.1:c.938_940delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408468.1:c.935_937delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408469.1:c.935_937delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408470.1:c.935_937delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408472.1:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408473.1:c.1076_1078delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408474.1:c.881_883delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408475.1:c.878_880delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408476.1:c.878_880delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408478.1:c.872_874delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408479.1:c.872_874delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408480.1:c.872_874delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408481.1:c.869_871delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408482.1:c.869_871delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408483.1:c.869_871delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408484.1:c.869_871delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408485.1:c.869_871delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408489.1:c.869_871delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408490.1:c.869_871delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408491.1:c.869_871delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408492.1:c.866_868delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408493.1:c.866_868delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408494.1:c.842_844delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408495.1:c.836_838delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408496.1:c.818_820delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408497.1:c.818_820delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408498.1:c.818_820delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408499.1:c.818_820delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408500.1:c.818_820delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408501.1:c.818_820delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408502.1:c.815_817delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408503.1:c.815_817delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408504.1:c.815_817delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408505.1:c.812_814delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408506.1:c.755_757delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408507.1:c.752_754delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408508.1:c.743_745delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408509.1:c.740_742delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408510.1:c.701_703delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408511.1:c.698_700delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408512.1:c.578_580delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.4391_4393delinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.4250_4252delinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.4:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007299.4:c.1079_1081delinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.4454_4456delinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007304.2:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027676.2:n.4568_4570delinsTT - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000076558Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Dec 6, 2023) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

SCV000699141Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Pathogenic
(Mar 3, 2016) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A, Haile RW, Malone KE, Capanu M, Diep A, Törngren T, Teraoka S, Begg CB, Thomas DC, Concannon P, Mellemkjaer L, Bernstein L, Tellhed L, Xue S, Olson ER, Liang X, Dolle J, Børresen-Dale AL, Bernstein JL.

Hum Mutat. 2010 Mar;31(3):E1200-40. doi: 10.1002/humu.21202.

PubMed [citation]
PMID:
20104584
PMCID:
PMC2928257

High prevalence of BRCA1 founder mutations in Greek breast/ovarian families.

Konstantopoulou I, Tsitlaidou M, Fostira F, Pertesi M, Stavropoulou AV, Triantafyllidou O, Tsotra E, Tsiftsoglou AP, Tsionou C, Droufakou S, Dimitrakakis C, Fountzilas G, Yannoukakos D.

Clin Genet. 2014 Jan;85(1):36-42. doi: 10.1111/cge.12274. Epub 2013 Oct 20.

PubMed [citation]
PMID:
24010542
See all PubMed Citations (10)

Details of each submission

From Invitae, SCV000076558.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This sequence change creates a premature translational stop signal (p.Pro1464Leufs*2) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 12827452, 16683254, 24010542, 31209999). This variant is also known as 4510del3insTT. ClinVar contains an entry for this variant (Variation ID: 37588). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699141.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024