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NM_007294.4(BRCA1):c.376C>T (p.Gln126Ter) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 14, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001203814.16

Allele description [Variation Report for NM_007294.4(BRCA1):c.376C>T (p.Gln126Ter)]

NM_007294.4(BRCA1):c.376C>T (p.Gln126Ter)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.376C>T (p.Gln126Ter)
HGVS:
  • NC_000017.11:g.43104187G>A
  • NG_005905.2:g.113797C>T
  • NM_001407571.1:c.166C>T
  • NM_001407581.1:c.376C>T
  • NM_001407582.1:c.376C>T
  • NM_001407583.1:c.376C>T
  • NM_001407585.1:c.376C>T
  • NM_001407587.1:c.376C>T
  • NM_001407590.1:c.376C>T
  • NM_001407591.1:c.376C>T
  • NM_001407593.1:c.376C>T
  • NM_001407594.1:c.376C>T
  • NM_001407596.1:c.376C>T
  • NM_001407597.1:c.376C>T
  • NM_001407598.1:c.376C>T
  • NM_001407602.1:c.376C>T
  • NM_001407603.1:c.376C>T
  • NM_001407605.1:c.376C>T
  • NM_001407610.1:c.376C>T
  • NM_001407611.1:c.376C>T
  • NM_001407612.1:c.376C>T
  • NM_001407613.1:c.376C>T
  • NM_001407614.1:c.376C>T
  • NM_001407615.1:c.376C>T
  • NM_001407616.1:c.376C>T
  • NM_001407617.1:c.376C>T
  • NM_001407618.1:c.376C>T
  • NM_001407619.1:c.376C>T
  • NM_001407620.1:c.376C>T
  • NM_001407621.1:c.376C>T
  • NM_001407622.1:c.376C>T
  • NM_001407623.1:c.376C>T
  • NM_001407624.1:c.376C>T
  • NM_001407625.1:c.376C>T
  • NM_001407626.1:c.376C>T
  • NM_001407627.1:c.376C>T
  • NM_001407628.1:c.376C>T
  • NM_001407629.1:c.376C>T
  • NM_001407630.1:c.376C>T
  • NM_001407631.1:c.376C>T
  • NM_001407632.1:c.376C>T
  • NM_001407633.1:c.376C>T
  • NM_001407634.1:c.376C>T
  • NM_001407635.1:c.376C>T
  • NM_001407636.1:c.376C>T
  • NM_001407637.1:c.376C>T
  • NM_001407638.1:c.376C>T
  • NM_001407639.1:c.376C>T
  • NM_001407640.1:c.376C>T
  • NM_001407641.1:c.376C>T
  • NM_001407642.1:c.376C>T
  • NM_001407644.1:c.376C>T
  • NM_001407645.1:c.376C>T
  • NM_001407646.1:c.367C>T
  • NM_001407647.1:c.367C>T
  • NM_001407648.1:c.376C>T
  • NM_001407649.1:c.376C>T
  • NM_001407652.1:c.376C>T
  • NM_001407653.1:c.298C>T
  • NM_001407654.1:c.298C>T
  • NM_001407655.1:c.298C>T
  • NM_001407656.1:c.298C>T
  • NM_001407657.1:c.298C>T
  • NM_001407658.1:c.298C>T
  • NM_001407659.1:c.298C>T
  • NM_001407660.1:c.298C>T
  • NM_001407661.1:c.298C>T
  • NM_001407662.1:c.298C>T
  • NM_001407663.1:c.298C>T
  • NM_001407664.1:c.376C>T
  • NM_001407665.1:c.376C>T
  • NM_001407666.1:c.376C>T
  • NM_001407667.1:c.376C>T
  • NM_001407668.1:c.376C>T
  • NM_001407669.1:c.376C>T
  • NM_001407670.1:c.376C>T
  • NM_001407671.1:c.376C>T
  • NM_001407672.1:c.376C>T
  • NM_001407673.1:c.376C>T
  • NM_001407674.1:c.376C>T
  • NM_001407675.1:c.376C>T
  • NM_001407676.1:c.376C>T
  • NM_001407677.1:c.376C>T
  • NM_001407678.1:c.376C>T
  • NM_001407679.1:c.376C>T
  • NM_001407680.1:c.376C>T
  • NM_001407681.1:c.376C>T
  • NM_001407682.1:c.376C>T
  • NM_001407683.1:c.376C>T
  • NM_001407684.1:c.376C>T
  • NM_001407685.1:c.376C>T
  • NM_001407686.1:c.376C>T
  • NM_001407687.1:c.376C>T
  • NM_001407688.1:c.376C>T
  • NM_001407689.1:c.376C>T
  • NM_001407690.1:c.376C>T
  • NM_001407691.1:c.376C>T
  • NM_001407692.1:c.235C>T
  • NM_001407694.1:c.235C>T
  • NM_001407695.1:c.235C>T
  • NM_001407696.1:c.235C>T
  • NM_001407697.1:c.235C>T
  • NM_001407698.1:c.235C>T
  • NM_001407724.1:c.235C>T
  • NM_001407725.1:c.235C>T
  • NM_001407726.1:c.235C>T
  • NM_001407727.1:c.235C>T
  • NM_001407728.1:c.235C>T
  • NM_001407729.1:c.235C>T
  • NM_001407730.1:c.235C>T
  • NM_001407731.1:c.235C>T
  • NM_001407732.1:c.235C>T
  • NM_001407733.1:c.235C>T
  • NM_001407734.1:c.235C>T
  • NM_001407735.1:c.235C>T
  • NM_001407736.1:c.235C>T
  • NM_001407737.1:c.235C>T
  • NM_001407738.1:c.235C>T
  • NM_001407739.1:c.235C>T
  • NM_001407740.1:c.235C>T
  • NM_001407741.1:c.235C>T
  • NM_001407742.1:c.235C>T
  • NM_001407743.1:c.235C>T
  • NM_001407744.1:c.235C>T
  • NM_001407745.1:c.235C>T
  • NM_001407746.1:c.235C>T
  • NM_001407747.1:c.235C>T
  • NM_001407748.1:c.235C>T
  • NM_001407749.1:c.235C>T
  • NM_001407750.1:c.235C>T
  • NM_001407751.1:c.235C>T
  • NM_001407752.1:c.235C>T
  • NM_001407838.1:c.235C>T
  • NM_001407839.1:c.235C>T
  • NM_001407841.1:c.235C>T
  • NM_001407842.1:c.235C>T
  • NM_001407843.1:c.235C>T
  • NM_001407844.1:c.235C>T
  • NM_001407845.1:c.235C>T
  • NM_001407846.1:c.235C>T
  • NM_001407847.1:c.235C>T
  • NM_001407848.1:c.235C>T
  • NM_001407849.1:c.235C>T
  • NM_001407850.1:c.235C>T
  • NM_001407851.1:c.235C>T
  • NM_001407852.1:c.235C>T
  • NM_001407853.1:c.166C>T
  • NM_001407854.1:c.376C>T
  • NM_001407858.1:c.376C>T
  • NM_001407859.1:c.376C>T
  • NM_001407860.1:c.376C>T
  • NM_001407861.1:c.376C>T
  • NM_001407862.1:c.298C>T
  • NM_001407863.1:c.376C>T
  • NM_001407874.1:c.298C>T
  • NM_001407875.1:c.298C>T
  • NM_001407879.1:c.166C>T
  • NM_001407881.1:c.166C>T
  • NM_001407882.1:c.166C>T
  • NM_001407884.1:c.166C>T
  • NM_001407885.1:c.166C>T
  • NM_001407886.1:c.166C>T
  • NM_001407887.1:c.166C>T
  • NM_001407889.1:c.166C>T
  • NM_001407894.1:c.166C>T
  • NM_001407895.1:c.166C>T
  • NM_001407896.1:c.166C>T
  • NM_001407897.1:c.166C>T
  • NM_001407898.1:c.166C>T
  • NM_001407899.1:c.166C>T
  • NM_001407900.1:c.166C>T
  • NM_001407902.1:c.166C>T
  • NM_001407904.1:c.166C>T
  • NM_001407906.1:c.166C>T
  • NM_001407907.1:c.166C>T
  • NM_001407908.1:c.166C>T
  • NM_001407909.1:c.166C>T
  • NM_001407910.1:c.166C>T
  • NM_001407915.1:c.166C>T
  • NM_001407916.1:c.166C>T
  • NM_001407917.1:c.166C>T
  • NM_001407918.1:c.166C>T
  • NM_001407919.1:c.376C>T
  • NM_001407920.1:c.235C>T
  • NM_001407921.1:c.235C>T
  • NM_001407922.1:c.235C>T
  • NM_001407923.1:c.235C>T
  • NM_001407924.1:c.235C>T
  • NM_001407925.1:c.235C>T
  • NM_001407926.1:c.235C>T
  • NM_001407927.1:c.235C>T
  • NM_001407928.1:c.235C>T
  • NM_001407929.1:c.235C>T
  • NM_001407930.1:c.235C>T
  • NM_001407931.1:c.235C>T
  • NM_001407932.1:c.235C>T
  • NM_001407933.1:c.235C>T
  • NM_001407934.1:c.235C>T
  • NM_001407935.1:c.235C>T
  • NM_001407936.1:c.235C>T
  • NM_001407937.1:c.376C>T
  • NM_001407938.1:c.376C>T
  • NM_001407939.1:c.376C>T
  • NM_001407940.1:c.376C>T
  • NM_001407941.1:c.376C>T
  • NM_001407942.1:c.235C>T
  • NM_001407943.1:c.235C>T
  • NM_001407944.1:c.235C>T
  • NM_001407945.1:c.235C>T
  • NM_001407946.1:c.166C>T
  • NM_001407947.1:c.166C>T
  • NM_001407948.1:c.166C>T
  • NM_001407949.1:c.166C>T
  • NM_001407950.1:c.166C>T
  • NM_001407951.1:c.166C>T
  • NM_001407952.1:c.166C>T
  • NM_001407953.1:c.166C>T
  • NM_001407954.1:c.166C>T
  • NM_001407955.1:c.166C>T
  • NM_001407956.1:c.166C>T
  • NM_001407957.1:c.166C>T
  • NM_001407958.1:c.166C>T
  • NM_001407959.1:c.-6C>T
  • NM_001407960.1:c.-6C>T
  • NM_001407962.1:c.-6C>T
  • NM_001407963.1:c.-6C>T
  • NM_001407964.1:c.235C>T
  • NM_001407965.1:c.-6C>T
  • NM_001407968.1:c.376C>T
  • NM_001407969.1:c.376C>T
  • NM_001407970.1:c.376C>T
  • NM_001407971.1:c.376C>T
  • NM_001407972.1:c.376C>T
  • NM_001407973.1:c.376C>T
  • NM_001407974.1:c.376C>T
  • NM_001407975.1:c.376C>T
  • NM_001407976.1:c.376C>T
  • NM_001407977.1:c.376C>T
  • NM_001407978.1:c.376C>T
  • NM_001407979.1:c.376C>T
  • NM_001407980.1:c.376C>T
  • NM_001407981.1:c.376C>T
  • NM_001407982.1:c.376C>T
  • NM_001407983.1:c.376C>T
  • NM_001407984.1:c.376C>T
  • NM_001407985.1:c.376C>T
  • NM_001407986.1:c.376C>T
  • NM_001407990.1:c.376C>T
  • NM_001407991.1:c.376C>T
  • NM_001407992.1:c.376C>T
  • NM_001407993.1:c.376C>T
  • NM_001408392.1:c.376C>T
  • NM_001408396.1:c.376C>T
  • NM_001408397.1:c.376C>T
  • NM_001408398.1:c.376C>T
  • NM_001408399.1:c.376C>T
  • NM_001408400.1:c.376C>T
  • NM_001408401.1:c.376C>T
  • NM_001408402.1:c.376C>T
  • NM_001408403.1:c.376C>T
  • NM_001408404.1:c.376C>T
  • NM_001408406.1:c.376C>T
  • NM_001408407.1:c.376C>T
  • NM_001408408.1:c.367C>T
  • NM_001408409.1:c.298C>T
  • NM_001408410.1:c.235C>T
  • NM_001408411.1:c.298C>T
  • NM_001408412.1:c.298C>T
  • NM_001408413.1:c.298C>T
  • NM_001408414.1:c.298C>T
  • NM_001408415.1:c.298C>T
  • NM_001408416.1:c.298C>T
  • NM_001408418.1:c.376C>T
  • NM_001408419.1:c.376C>T
  • NM_001408420.1:c.376C>T
  • NM_001408421.1:c.376C>T
  • NM_001408422.1:c.376C>T
  • NM_001408423.1:c.376C>T
  • NM_001408424.1:c.376C>T
  • NM_001408425.1:c.376C>T
  • NM_001408426.1:c.376C>T
  • NM_001408427.1:c.376C>T
  • NM_001408428.1:c.376C>T
  • NM_001408429.1:c.376C>T
  • NM_001408430.1:c.376C>T
  • NM_001408431.1:c.376C>T
  • NM_001408432.1:c.376C>T
  • NM_001408433.1:c.376C>T
  • NM_001408434.1:c.376C>T
  • NM_001408435.1:c.376C>T
  • NM_001408436.1:c.376C>T
  • NM_001408437.1:c.376C>T
  • NM_001408438.1:c.376C>T
  • NM_001408439.1:c.376C>T
  • NM_001408440.1:c.376C>T
  • NM_001408441.1:c.376C>T
  • NM_001408442.1:c.376C>T
  • NM_001408443.1:c.376C>T
  • NM_001408444.1:c.376C>T
  • NM_001408445.1:c.376C>T
  • NM_001408446.1:c.376C>T
  • NM_001408447.1:c.376C>T
  • NM_001408448.1:c.376C>T
  • NM_001408450.1:c.376C>T
  • NM_001408451.1:c.244C>T
  • NM_001408452.1:c.235C>T
  • NM_001408453.1:c.235C>T
  • NM_001408454.1:c.235C>T
  • NM_001408455.1:c.235C>T
  • NM_001408456.1:c.235C>T
  • NM_001408457.1:c.235C>T
  • NM_001408458.1:c.235C>T
  • NM_001408459.1:c.235C>T
  • NM_001408460.1:c.235C>T
  • NM_001408461.1:c.235C>T
  • NM_001408462.1:c.235C>T
  • NM_001408463.1:c.235C>T
  • NM_001408464.1:c.235C>T
  • NM_001408465.1:c.235C>T
  • NM_001408466.1:c.235C>T
  • NM_001408467.1:c.235C>T
  • NM_001408468.1:c.235C>T
  • NM_001408469.1:c.235C>T
  • NM_001408470.1:c.235C>T
  • NM_001408472.1:c.376C>T
  • NM_001408473.1:c.376C>T
  • NM_001408474.1:c.298C>T
  • NM_001408475.1:c.298C>T
  • NM_001408476.1:c.298C>T
  • NM_001408478.1:c.166C>T
  • NM_001408479.1:c.166C>T
  • NM_001408480.1:c.166C>T
  • NM_001408481.1:c.166C>T
  • NM_001408482.1:c.166C>T
  • NM_001408483.1:c.166C>T
  • NM_001408484.1:c.166C>T
  • NM_001408485.1:c.166C>T
  • NM_001408489.1:c.166C>T
  • NM_001408490.1:c.166C>T
  • NM_001408491.1:c.166C>T
  • NM_001408492.1:c.166C>T
  • NM_001408493.1:c.166C>T
  • NM_001408494.1:c.376C>T
  • NM_001408495.1:c.376C>T
  • NM_001408496.1:c.235C>T
  • NM_001408497.1:c.235C>T
  • NM_001408498.1:c.235C>T
  • NM_001408499.1:c.235C>T
  • NM_001408500.1:c.235C>T
  • NM_001408501.1:c.235C>T
  • NM_001408502.1:c.166C>T
  • NM_001408503.1:c.235C>T
  • NM_001408504.1:c.235C>T
  • NM_001408505.1:c.235C>T
  • NM_001408506.1:c.166C>T
  • NM_001408507.1:c.166C>T
  • NM_001408508.1:c.166C>T
  • NM_001408509.1:c.166C>T
  • NM_001408510.1:c.-6C>T
  • NM_001408511.1:c.235C>T
  • NM_001408512.1:c.-6C>T
  • NM_001408513.1:c.166C>T
  • NM_001408514.1:c.166C>T
  • NM_007294.4:c.376C>TMANE SELECT
  • NM_007297.4:c.235C>T
  • NM_007298.4:c.376C>T
  • NM_007299.4:c.376C>T
  • NM_007300.4:c.376C>T
  • NM_007304.2:c.376C>T
  • NP_001394500.1:p.Gln56Ter
  • NP_001394510.1:p.Gln126Ter
  • NP_001394511.1:p.Gln126Ter
  • NP_001394512.1:p.Gln126Ter
  • NP_001394514.1:p.Gln126Ter
  • NP_001394516.1:p.Gln126Ter
  • NP_001394519.1:p.Gln126Ter
  • NP_001394520.1:p.Gln126Ter
  • NP_001394522.1:p.Gln126Ter
  • NP_001394523.1:p.Gln126Ter
  • NP_001394525.1:p.Gln126Ter
  • NP_001394526.1:p.Gln126Ter
  • NP_001394527.1:p.Gln126Ter
  • NP_001394531.1:p.Gln126Ter
  • NP_001394532.1:p.Gln126Ter
  • NP_001394534.1:p.Gln126Ter
  • NP_001394539.1:p.Gln126Ter
  • NP_001394540.1:p.Gln126Ter
  • NP_001394541.1:p.Gln126Ter
  • NP_001394542.1:p.Gln126Ter
  • NP_001394543.1:p.Gln126Ter
  • NP_001394544.1:p.Gln126Ter
  • NP_001394545.1:p.Gln126Ter
  • NP_001394546.1:p.Gln126Ter
  • NP_001394547.1:p.Gln126Ter
  • NP_001394548.1:p.Gln126Ter
  • NP_001394549.1:p.Gln126Ter
  • NP_001394550.1:p.Gln126Ter
  • NP_001394551.1:p.Gln126Ter
  • NP_001394552.1:p.Gln126Ter
  • NP_001394553.1:p.Gln126Ter
  • NP_001394554.1:p.Gln126Ter
  • NP_001394555.1:p.Gln126Ter
  • NP_001394556.1:p.Gln126Ter
  • NP_001394557.1:p.Gln126Ter
  • NP_001394558.1:p.Gln126Ter
  • NP_001394559.1:p.Gln126Ter
  • NP_001394560.1:p.Gln126Ter
  • NP_001394561.1:p.Gln126Ter
  • NP_001394562.1:p.Gln126Ter
  • NP_001394563.1:p.Gln126Ter
  • NP_001394564.1:p.Gln126Ter
  • NP_001394565.1:p.Gln126Ter
  • NP_001394566.1:p.Gln126Ter
  • NP_001394567.1:p.Gln126Ter
  • NP_001394568.1:p.Gln126Ter
  • NP_001394569.1:p.Gln126Ter
  • NP_001394570.1:p.Gln126Ter
  • NP_001394571.1:p.Gln126Ter
  • NP_001394573.1:p.Gln126Ter
  • NP_001394574.1:p.Gln126Ter
  • NP_001394575.1:p.Gln123Ter
  • NP_001394576.1:p.Gln123Ter
  • NP_001394577.1:p.Gln126Ter
  • NP_001394578.1:p.Gln126Ter
  • NP_001394581.1:p.Gln126Ter
  • NP_001394582.1:p.Gln100Ter
  • NP_001394583.1:p.Gln100Ter
  • NP_001394584.1:p.Gln100Ter
  • NP_001394585.1:p.Gln100Ter
  • NP_001394586.1:p.Gln100Ter
  • NP_001394587.1:p.Gln100Ter
  • NP_001394588.1:p.Gln100Ter
  • NP_001394589.1:p.Gln100Ter
  • NP_001394590.1:p.Gln100Ter
  • NP_001394591.1:p.Gln100Ter
  • NP_001394592.1:p.Gln100Ter
  • NP_001394593.1:p.Gln126Ter
  • NP_001394594.1:p.Gln126Ter
  • NP_001394595.1:p.Gln126Ter
  • NP_001394596.1:p.Gln126Ter
  • NP_001394597.1:p.Gln126Ter
  • NP_001394598.1:p.Gln126Ter
  • NP_001394599.1:p.Gln126Ter
  • NP_001394600.1:p.Gln126Ter
  • NP_001394601.1:p.Gln126Ter
  • NP_001394602.1:p.Gln126Ter
  • NP_001394603.1:p.Gln126Ter
  • NP_001394604.1:p.Gln126Ter
  • NP_001394605.1:p.Gln126Ter
  • NP_001394606.1:p.Gln126Ter
  • NP_001394607.1:p.Gln126Ter
  • NP_001394608.1:p.Gln126Ter
  • NP_001394609.1:p.Gln126Ter
  • NP_001394610.1:p.Gln126Ter
  • NP_001394611.1:p.Gln126Ter
  • NP_001394612.1:p.Gln126Ter
  • NP_001394613.1:p.Gln126Ter
  • NP_001394614.1:p.Gln126Ter
  • NP_001394615.1:p.Gln126Ter
  • NP_001394616.1:p.Gln126Ter
  • NP_001394617.1:p.Gln126Ter
  • NP_001394618.1:p.Gln126Ter
  • NP_001394619.1:p.Gln126Ter
  • NP_001394620.1:p.Gln126Ter
  • NP_001394621.1:p.Gln79Ter
  • NP_001394623.1:p.Gln79Ter
  • NP_001394624.1:p.Gln79Ter
  • NP_001394625.1:p.Gln79Ter
  • NP_001394626.1:p.Gln79Ter
  • NP_001394627.1:p.Gln79Ter
  • NP_001394653.1:p.Gln79Ter
  • NP_001394654.1:p.Gln79Ter
  • NP_001394655.1:p.Gln79Ter
  • NP_001394656.1:p.Gln79Ter
  • NP_001394657.1:p.Gln79Ter
  • NP_001394658.1:p.Gln79Ter
  • NP_001394659.1:p.Gln79Ter
  • NP_001394660.1:p.Gln79Ter
  • NP_001394661.1:p.Gln79Ter
  • NP_001394662.1:p.Gln79Ter
  • NP_001394663.1:p.Gln79Ter
  • NP_001394664.1:p.Gln79Ter
  • NP_001394665.1:p.Gln79Ter
  • NP_001394666.1:p.Gln79Ter
  • NP_001394667.1:p.Gln79Ter
  • NP_001394668.1:p.Gln79Ter
  • NP_001394669.1:p.Gln79Ter
  • NP_001394670.1:p.Gln79Ter
  • NP_001394671.1:p.Gln79Ter
  • NP_001394672.1:p.Gln79Ter
  • NP_001394673.1:p.Gln79Ter
  • NP_001394674.1:p.Gln79Ter
  • NP_001394675.1:p.Gln79Ter
  • NP_001394676.1:p.Gln79Ter
  • NP_001394677.1:p.Gln79Ter
  • NP_001394678.1:p.Gln79Ter
  • NP_001394679.1:p.Gln79Ter
  • NP_001394680.1:p.Gln79Ter
  • NP_001394681.1:p.Gln79Ter
  • NP_001394767.1:p.Gln79Ter
  • NP_001394768.1:p.Gln79Ter
  • NP_001394770.1:p.Gln79Ter
  • NP_001394771.1:p.Gln79Ter
  • NP_001394772.1:p.Gln79Ter
  • NP_001394773.1:p.Gln79Ter
  • NP_001394774.1:p.Gln79Ter
  • NP_001394775.1:p.Gln79Ter
  • NP_001394776.1:p.Gln79Ter
  • NP_001394777.1:p.Gln79Ter
  • NP_001394778.1:p.Gln79Ter
  • NP_001394779.1:p.Gln79Ter
  • NP_001394780.1:p.Gln79Ter
  • NP_001394781.1:p.Gln79Ter
  • NP_001394782.1:p.Gln56Ter
  • NP_001394783.1:p.Gln126Ter
  • NP_001394787.1:p.Gln126Ter
  • NP_001394788.1:p.Gln126Ter
  • NP_001394789.1:p.Gln126Ter
  • NP_001394790.1:p.Gln126Ter
  • NP_001394791.1:p.Gln100Ter
  • NP_001394792.1:p.Gln126Ter
  • NP_001394803.1:p.Gln100Ter
  • NP_001394804.1:p.Gln100Ter
  • NP_001394808.1:p.Gln56Ter
  • NP_001394810.1:p.Gln56Ter
  • NP_001394811.1:p.Gln56Ter
  • NP_001394813.1:p.Gln56Ter
  • NP_001394814.1:p.Gln56Ter
  • NP_001394815.1:p.Gln56Ter
  • NP_001394816.1:p.Gln56Ter
  • NP_001394818.1:p.Gln56Ter
  • NP_001394823.1:p.Gln56Ter
  • NP_001394824.1:p.Gln56Ter
  • NP_001394825.1:p.Gln56Ter
  • NP_001394826.1:p.Gln56Ter
  • NP_001394827.1:p.Gln56Ter
  • NP_001394828.1:p.Gln56Ter
  • NP_001394829.1:p.Gln56Ter
  • NP_001394831.1:p.Gln56Ter
  • NP_001394833.1:p.Gln56Ter
  • NP_001394835.1:p.Gln56Ter
  • NP_001394836.1:p.Gln56Ter
  • NP_001394837.1:p.Gln56Ter
  • NP_001394838.1:p.Gln56Ter
  • NP_001394839.1:p.Gln56Ter
  • NP_001394844.1:p.Gln56Ter
  • NP_001394845.1:p.Gln56Ter
  • NP_001394846.1:p.Gln56Ter
  • NP_001394847.1:p.Gln56Ter
  • NP_001394848.1:p.Gln126Ter
  • NP_001394849.1:p.Gln79Ter
  • NP_001394850.1:p.Gln79Ter
  • NP_001394851.1:p.Gln79Ter
  • NP_001394852.1:p.Gln79Ter
  • NP_001394853.1:p.Gln79Ter
  • NP_001394854.1:p.Gln79Ter
  • NP_001394855.1:p.Gln79Ter
  • NP_001394856.1:p.Gln79Ter
  • NP_001394857.1:p.Gln79Ter
  • NP_001394858.1:p.Gln79Ter
  • NP_001394859.1:p.Gln79Ter
  • NP_001394860.1:p.Gln79Ter
  • NP_001394861.1:p.Gln79Ter
  • NP_001394862.1:p.Gln79Ter
  • NP_001394863.1:p.Gln79Ter
  • NP_001394864.1:p.Gln79Ter
  • NP_001394865.1:p.Gln79Ter
  • NP_001394866.1:p.Gln126Ter
  • NP_001394867.1:p.Gln126Ter
  • NP_001394868.1:p.Gln126Ter
  • NP_001394869.1:p.Gln126Ter
  • NP_001394870.1:p.Gln126Ter
  • NP_001394871.1:p.Gln79Ter
  • NP_001394872.1:p.Gln79Ter
  • NP_001394873.1:p.Gln79Ter
  • NP_001394874.1:p.Gln79Ter
  • NP_001394875.1:p.Gln56Ter
  • NP_001394876.1:p.Gln56Ter
  • NP_001394877.1:p.Gln56Ter
  • NP_001394878.1:p.Gln56Ter
  • NP_001394879.1:p.Gln56Ter
  • NP_001394880.1:p.Gln56Ter
  • NP_001394881.1:p.Gln56Ter
  • NP_001394882.1:p.Gln56Ter
  • NP_001394883.1:p.Gln56Ter
  • NP_001394884.1:p.Gln56Ter
  • NP_001394885.1:p.Gln56Ter
  • NP_001394886.1:p.Gln56Ter
  • NP_001394887.1:p.Gln56Ter
  • NP_001394893.1:p.Gln79Ter
  • NP_001394897.1:p.Gln126Ter
  • NP_001394898.1:p.Gln126Ter
  • NP_001394899.1:p.Gln126Ter
  • NP_001394900.1:p.Gln126Ter
  • NP_001394901.1:p.Gln126Ter
  • NP_001394902.1:p.Gln126Ter
  • NP_001394903.1:p.Gln126Ter
  • NP_001394904.1:p.Gln126Ter
  • NP_001394905.1:p.Gln126Ter
  • NP_001394906.1:p.Gln126Ter
  • NP_001394907.1:p.Gln126Ter
  • NP_001394908.1:p.Gln126Ter
  • NP_001394909.1:p.Gln126Ter
  • NP_001394910.1:p.Gln126Ter
  • NP_001394911.1:p.Gln126Ter
  • NP_001394912.1:p.Gln126Ter
  • NP_001394913.1:p.Gln126Ter
  • NP_001394914.1:p.Gln126Ter
  • NP_001394915.1:p.Gln126Ter
  • NP_001394919.1:p.Gln126Ter
  • NP_001394920.1:p.Gln126Ter
  • NP_001394921.1:p.Gln126Ter
  • NP_001394922.1:p.Gln126Ter
  • NP_001395321.1:p.Gln126Ter
  • NP_001395325.1:p.Gln126Ter
  • NP_001395326.1:p.Gln126Ter
  • NP_001395327.1:p.Gln126Ter
  • NP_001395328.1:p.Gln126Ter
  • NP_001395329.1:p.Gln126Ter
  • NP_001395330.1:p.Gln126Ter
  • NP_001395331.1:p.Gln126Ter
  • NP_001395332.1:p.Gln126Ter
  • NP_001395333.1:p.Gln126Ter
  • NP_001395335.1:p.Gln126Ter
  • NP_001395336.1:p.Gln126Ter
  • NP_001395337.1:p.Gln123Ter
  • NP_001395338.1:p.Gln100Ter
  • NP_001395339.1:p.Gln79Ter
  • NP_001395340.1:p.Gln100Ter
  • NP_001395341.1:p.Gln100Ter
  • NP_001395342.1:p.Gln100Ter
  • NP_001395343.1:p.Gln100Ter
  • NP_001395344.1:p.Gln100Ter
  • NP_001395345.1:p.Gln100Ter
  • NP_001395347.1:p.Gln126Ter
  • NP_001395348.1:p.Gln126Ter
  • NP_001395349.1:p.Gln126Ter
  • NP_001395350.1:p.Gln126Ter
  • NP_001395351.1:p.Gln126Ter
  • NP_001395352.1:p.Gln126Ter
  • NP_001395353.1:p.Gln126Ter
  • NP_001395354.1:p.Gln126Ter
  • NP_001395355.1:p.Gln126Ter
  • NP_001395356.1:p.Gln126Ter
  • NP_001395357.1:p.Gln126Ter
  • NP_001395358.1:p.Gln126Ter
  • NP_001395359.1:p.Gln126Ter
  • NP_001395360.1:p.Gln126Ter
  • NP_001395361.1:p.Gln126Ter
  • NP_001395362.1:p.Gln126Ter
  • NP_001395363.1:p.Gln126Ter
  • NP_001395364.1:p.Gln126Ter
  • NP_001395365.1:p.Gln126Ter
  • NP_001395366.1:p.Gln126Ter
  • NP_001395367.1:p.Gln126Ter
  • NP_001395368.1:p.Gln126Ter
  • NP_001395369.1:p.Gln126Ter
  • NP_001395370.1:p.Gln126Ter
  • NP_001395371.1:p.Gln126Ter
  • NP_001395372.1:p.Gln126Ter
  • NP_001395373.1:p.Gln126Ter
  • NP_001395374.1:p.Gln126Ter
  • NP_001395375.1:p.Gln126Ter
  • NP_001395376.1:p.Gln126Ter
  • NP_001395377.1:p.Gln126Ter
  • NP_001395379.1:p.Gln126Ter
  • NP_001395380.1:p.Gln82Ter
  • NP_001395381.1:p.Gln79Ter
  • NP_001395382.1:p.Gln79Ter
  • NP_001395383.1:p.Gln79Ter
  • NP_001395384.1:p.Gln79Ter
  • NP_001395385.1:p.Gln79Ter
  • NP_001395386.1:p.Gln79Ter
  • NP_001395387.1:p.Gln79Ter
  • NP_001395388.1:p.Gln79Ter
  • NP_001395389.1:p.Gln79Ter
  • NP_001395390.1:p.Gln79Ter
  • NP_001395391.1:p.Gln79Ter
  • NP_001395392.1:p.Gln79Ter
  • NP_001395393.1:p.Gln79Ter
  • NP_001395394.1:p.Gln79Ter
  • NP_001395395.1:p.Gln79Ter
  • NP_001395396.1:p.Gln79Ter
  • NP_001395397.1:p.Gln79Ter
  • NP_001395398.1:p.Gln79Ter
  • NP_001395399.1:p.Gln79Ter
  • NP_001395401.1:p.Gln126Ter
  • NP_001395402.1:p.Gln126Ter
  • NP_001395403.1:p.Gln100Ter
  • NP_001395404.1:p.Gln100Ter
  • NP_001395405.1:p.Gln100Ter
  • NP_001395407.1:p.Gln56Ter
  • NP_001395408.1:p.Gln56Ter
  • NP_001395409.1:p.Gln56Ter
  • NP_001395410.1:p.Gln56Ter
  • NP_001395411.1:p.Gln56Ter
  • NP_001395412.1:p.Gln56Ter
  • NP_001395413.1:p.Gln56Ter
  • NP_001395414.1:p.Gln56Ter
  • NP_001395418.1:p.Gln56Ter
  • NP_001395419.1:p.Gln56Ter
  • NP_001395420.1:p.Gln56Ter
  • NP_001395421.1:p.Gln56Ter
  • NP_001395422.1:p.Gln56Ter
  • NP_001395423.1:p.Gln126Ter
  • NP_001395424.1:p.Gln126Ter
  • NP_001395425.1:p.Gln79Ter
  • NP_001395426.1:p.Gln79Ter
  • NP_001395427.1:p.Gln79Ter
  • NP_001395428.1:p.Gln79Ter
  • NP_001395429.1:p.Gln79Ter
  • NP_001395430.1:p.Gln79Ter
  • NP_001395431.1:p.Gln56Ter
  • NP_001395432.1:p.Gln79Ter
  • NP_001395433.1:p.Gln79Ter
  • NP_001395434.1:p.Gln79Ter
  • NP_001395435.1:p.Gln56Ter
  • NP_001395436.1:p.Gln56Ter
  • NP_001395437.1:p.Gln56Ter
  • NP_001395438.1:p.Gln56Ter
  • NP_001395440.1:p.Gln79Ter
  • NP_001395442.1:p.Gln56Ter
  • NP_001395443.1:p.Gln56Ter
  • NP_009225.1:p.Gln126Ter
  • NP_009225.1:p.Gln126Ter
  • NP_009228.2:p.Gln79Ter
  • NP_009229.2:p.Gln126Ter
  • NP_009229.2:p.Gln126Ter
  • NP_009230.2:p.Gln126Ter
  • NP_009231.2:p.Gln126Ter
  • NP_009235.2:p.Gln126Ter
  • LRG_292t1:c.376C>T
  • LRG_292:g.113797C>T
  • LRG_292p1:p.Gln126Ter
  • NC_000017.10:g.41256204G>A
  • NM_007294.3:c.376C>T
  • NM_007298.3:c.376C>T
  • NR_027676.2:n.556C>T
  • p.(Gln126Ter)
Protein change:
Q100*
Links:
dbSNP: rs1085307902
NCBI 1000 Genomes Browser:
rs1085307902
Molecular consequence:
  • NR_027676.2:n.556C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001407571.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407581.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407582.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407583.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407585.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407587.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407590.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407591.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407593.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407594.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407596.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407597.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407598.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407602.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407603.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407605.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407610.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407611.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407612.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407613.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407614.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407615.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407616.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407617.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407618.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407619.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407620.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407621.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407622.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407623.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407624.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407625.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407626.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407627.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407628.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407629.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407630.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407631.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407632.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407633.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407634.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407635.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407636.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407637.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407638.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407639.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407640.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407641.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407642.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407644.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407645.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407646.1:c.367C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407647.1:c.367C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407648.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407649.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407652.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407653.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407654.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407655.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407656.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407657.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407658.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407659.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407660.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407661.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407662.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407663.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407664.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407665.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407666.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407667.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407668.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407669.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407670.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407671.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407672.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407673.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407674.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407675.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407676.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407677.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407678.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407679.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407680.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407681.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407682.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407683.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407684.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407685.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407686.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407687.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407688.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407689.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407690.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407691.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407692.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407694.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407695.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407696.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407697.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407698.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407724.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407725.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407726.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407727.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407728.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407729.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407730.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407731.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407732.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407733.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407734.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407735.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407736.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407737.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407738.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407739.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407740.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407741.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407742.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407743.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407744.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407745.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407746.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407747.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407748.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407749.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407750.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407751.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407752.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407838.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407839.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407841.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407842.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407843.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407844.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407845.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407846.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407847.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407848.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407849.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407850.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407851.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407852.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407853.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407854.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407858.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407859.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407860.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407861.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407862.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407863.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407874.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407875.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407879.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407881.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407882.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407884.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407885.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407886.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407887.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407889.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407894.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407895.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407896.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407897.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407898.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407899.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407900.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407902.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407904.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407906.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407907.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407908.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407909.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407910.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407915.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407916.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407917.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407918.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407919.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407920.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407921.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407922.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407923.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407924.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407925.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407926.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407927.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407928.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407929.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407930.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407931.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407932.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407933.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407934.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407935.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407936.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407937.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407938.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407939.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407940.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407941.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407942.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407943.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407944.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407945.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407946.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407947.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407948.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407949.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407950.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407951.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407952.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407953.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407954.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407955.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407956.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407957.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407958.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407964.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407968.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407969.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407970.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407971.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407972.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407973.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407974.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407975.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407976.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407977.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407978.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407979.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407980.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407981.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407982.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407983.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407984.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407985.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407986.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407990.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407991.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407992.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407993.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408392.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408396.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408397.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408398.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408399.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408400.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408401.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408402.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408403.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408404.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408406.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408407.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408408.1:c.367C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408409.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408410.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408411.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408412.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408413.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408414.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408415.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408416.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408418.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408419.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408420.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408421.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408422.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408423.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408424.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408425.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408426.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408427.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408428.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408429.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408430.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408431.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408432.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408433.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408434.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408435.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408436.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408437.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408438.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408439.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408440.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408441.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408442.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408443.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408444.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408445.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408446.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408447.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408448.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408450.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408451.1:c.244C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408452.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408453.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408454.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408455.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408456.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408457.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408458.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408459.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408460.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408461.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408462.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408463.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408464.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408465.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408466.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408467.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408468.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408469.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408470.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408472.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408473.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408474.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408475.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408476.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408478.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408479.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408480.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408481.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408482.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408483.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408484.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408485.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408489.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408490.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408491.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408492.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408493.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408494.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408495.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408496.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408497.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408498.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408499.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408500.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408501.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408502.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408503.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408504.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408505.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408506.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408507.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408508.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408509.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408511.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408513.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408514.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007294.4:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007297.4:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007298.4:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007299.4:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007300.4:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007304.2:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV001374992Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jun 14, 2019) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

Sun J, Meng H, Yao L, Lv M, Bai J, Zhang J, Wang L, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.

Clin Cancer Res. 2017 Oct 15;23(20):6113-6119. doi: 10.1158/1078-0432.CCR-16-3227. Epub 2017 Jul 19.

PubMed [citation]
PMID:
28724667

Prevalence and Spectrum of BRCA1/2 Germline Mutations in Women with Breast Cancer in China Based on Next-Generation Sequencing.

Liang Y, Yang X, Li H, Zhu A, Guo Z, Li M.

Med Sci Monit. 2018 Apr 23;24:2465-2475.

PubMed [citation]
PMID:
29681614
PMCID:
PMC5936051
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001374992.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Gln126*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with breast cancer (PMID: 28724667, 29681614). ClinVar contains an entry for this variant (Variation ID: 427022). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024