NM_007294.4(BRCA1):c.4611_4612insG (p.Gln1538fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jan 23, 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:: RCV000131883.18

Allele description [Variation Report for NM_007294.4(BRCA1):c.4611_4612insG (p.Gln1538fs)]

NM_007294.4(BRCA1):c.4611_4612insG (p.Gln1538fs)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.4611_4612insG (p.Gln1538fs)

Other names:

4730insG

HGVS:

NC_000017.11:g.43074394_43074395insC
NG_005905.2:g.143589_143590insG
NM_001407571.1:c.4398_4399insG
NM_001407581.1:c.4677_4678insG
NM_001407582.1:c.4677_4678insG
NM_001407583.1:c.4674_4675insG
NM_001407585.1:c.4674_4675insG
NM_001407587.1:c.4674_4675insG
NM_001407590.1:c.4671_4672insG
NM_001407591.1:c.4671_4672insG
NM_001407593.1:c.4611_4612insG
NM_001407594.1:c.4611_4612insG
NM_001407596.1:c.4611_4612insG
NM_001407597.1:c.4611_4612insG
NM_001407598.1:c.4611_4612insG
NM_001407602.1:c.4611_4612insG
NM_001407603.1:c.4611_4612insG
NM_001407605.1:c.4611_4612insG
NM_001407610.1:c.4608_4609insG
NM_001407611.1:c.4608_4609insG
NM_001407612.1:c.4608_4609insG
NM_001407613.1:c.4608_4609insG
NM_001407614.1:c.4608_4609insG
NM_001407615.1:c.4608_4609insG
NM_001407616.1:c.4608_4609insG
NM_001407617.1:c.4608_4609insG
NM_001407618.1:c.4608_4609insG
NM_001407619.1:c.4608_4609insG
NM_001407620.1:c.4608_4609insG
NM_001407621.1:c.4608_4609insG
NM_001407622.1:c.4608_4609insG
NM_001407623.1:c.4608_4609insG
NM_001407624.1:c.4608_4609insG
NM_001407625.1:c.4608_4609insG
NM_001407626.1:c.4608_4609insG
NM_001407627.1:c.4605_4606insG
NM_001407628.1:c.4605_4606insG
NM_001407629.1:c.4605_4606insG
NM_001407630.1:c.4605_4606insG
NM_001407631.1:c.4605_4606insG
NM_001407632.1:c.4605_4606insG
NM_001407633.1:c.4605_4606insG
NM_001407634.1:c.4605_4606insG
NM_001407635.1:c.4605_4606insG
NM_001407636.1:c.4605_4606insG
NM_001407637.1:c.4605_4606insG
NM_001407638.1:c.4605_4606insG
NM_001407639.1:c.4605_4606insG
NM_001407640.1:c.4605_4606insG
NM_001407641.1:c.4605_4606insG
NM_001407642.1:c.4605_4606insG
NM_001407644.1:c.4602_4603insG
NM_001407645.1:c.4602_4603insG
NM_001407646.1:c.4599_4600insG
NM_001407647.1:c.4596_4597insG
NM_001407648.1:c.4554_4555insG
NM_001407649.1:c.4551_4552insG
NM_001407652.1:c.4611_4612insG
NM_001407653.1:c.4533_4534insG
NM_001407654.1:c.4533_4534insG
NM_001407655.1:c.4533_4534insG
NM_001407656.1:c.4530_4531insG
NM_001407657.1:c.4530_4531insG
NM_001407658.1:c.4530_4531insG
NM_001407659.1:c.4527_4528insG
NM_001407660.1:c.4527_4528insG
NM_001407661.1:c.4527_4528insG
NM_001407662.1:c.4527_4528insG
NM_001407663.1:c.4527_4528insG
NM_001407664.1:c.4488_4489insG
NM_001407665.1:c.4488_4489insG
NM_001407666.1:c.4488_4489insG
NM_001407667.1:c.4488_4489insG
NM_001407668.1:c.4488_4489insG
NM_001407669.1:c.4488_4489insG
NM_001407670.1:c.4485_4486insG
NM_001407671.1:c.4485_4486insG
NM_001407672.1:c.4485_4486insG
NM_001407673.1:c.4485_4486insG
NM_001407674.1:c.4485_4486insG
NM_001407675.1:c.4485_4486insG
NM_001407676.1:c.4485_4486insG
NM_001407677.1:c.4485_4486insG
NM_001407678.1:c.4485_4486insG
NM_001407679.1:c.4485_4486insG
NM_001407680.1:c.4485_4486insG
NM_001407681.1:c.4482_4483insG
NM_001407682.1:c.4482_4483insG
NM_001407683.1:c.4482_4483insG
NM_001407684.1:c.4611_4612insG
NM_001407685.1:c.4482_4483insG
NM_001407686.1:c.4482_4483insG
NM_001407687.1:c.4482_4483insG
NM_001407688.1:c.4482_4483insG
NM_001407689.1:c.4482_4483insG
NM_001407690.1:c.4479_4480insG
NM_001407691.1:c.4479_4480insG
NM_001407692.1:c.4470_4471insG
NM_001407694.1:c.4470_4471insG
NM_001407695.1:c.4470_4471insG
NM_001407696.1:c.4470_4471insG
NM_001407697.1:c.4470_4471insG
NM_001407698.1:c.4470_4471insG
NM_001407724.1:c.4470_4471insG
NM_001407725.1:c.4470_4471insG
NM_001407726.1:c.4470_4471insG
NM_001407727.1:c.4470_4471insG
NM_001407728.1:c.4470_4471insG
NM_001407729.1:c.4470_4471insG
NM_001407730.1:c.4470_4471insG
NM_001407731.1:c.4470_4471insG
NM_001407732.1:c.4467_4468insG
NM_001407733.1:c.4467_4468insG
NM_001407734.1:c.4467_4468insG
NM_001407735.1:c.4467_4468insG
NM_001407736.1:c.4467_4468insG
NM_001407737.1:c.4467_4468insG
NM_001407738.1:c.4467_4468insG
NM_001407739.1:c.4467_4468insG
NM_001407740.1:c.4467_4468insG
NM_001407741.1:c.4467_4468insG
NM_001407742.1:c.4467_4468insG
NM_001407743.1:c.4467_4468insG
NM_001407744.1:c.4467_4468insG
NM_001407745.1:c.4467_4468insG
NM_001407746.1:c.4467_4468insG
NM_001407747.1:c.4467_4468insG
NM_001407748.1:c.4467_4468insG
NM_001407749.1:c.4467_4468insG
NM_001407750.1:c.4467_4468insG
NM_001407751.1:c.4467_4468insG
NM_001407752.1:c.4467_4468insG
NM_001407838.1:c.4464_4465insG
NM_001407839.1:c.4464_4465insG
NM_001407841.1:c.4464_4465insG
NM_001407842.1:c.4464_4465insG
NM_001407843.1:c.4464_4465insG
NM_001407844.1:c.4464_4465insG
NM_001407845.1:c.4464_4465insG
NM_001407846.1:c.4464_4465insG
NM_001407847.1:c.4464_4465insG
NM_001407848.1:c.4464_4465insG
NM_001407849.1:c.4464_4465insG
NM_001407850.1:c.4464_4465insG
NM_001407851.1:c.4464_4465insG
NM_001407852.1:c.4464_4465insG
NM_001407853.1:c.4464_4465insG
NM_001407854.1:c.4611_4612insG
NM_001407858.1:c.4608_4609insG
NM_001407859.1:c.4608_4609insG
NM_001407860.1:c.4608_4609insG
NM_001407861.1:c.4605_4606insG
NM_001407862.1:c.4410_4411insG
NM_001407863.1:c.4485_4486insG
NM_001407874.1:c.4404_4405insG
NM_001407875.1:c.4404_4405insG
NM_001407879.1:c.4401_4402insG
NM_001407881.1:c.4401_4402insG
NM_001407882.1:c.4401_4402insG
NM_001407884.1:c.4401_4402insG
NM_001407885.1:c.4401_4402insG
NM_001407886.1:c.4401_4402insG
NM_001407887.1:c.4401_4402insG
NM_001407889.1:c.4401_4402insG
NM_001407894.1:c.4398_4399insG
NM_001407895.1:c.4398_4399insG
NM_001407896.1:c.4398_4399insG
NM_001407897.1:c.4398_4399insG
NM_001407898.1:c.4398_4399insG
NM_001407899.1:c.4398_4399insG
NM_001407900.1:c.4398_4399insG
NM_001407902.1:c.4398_4399insG
NM_001407904.1:c.4398_4399insG
NM_001407906.1:c.4398_4399insG
NM_001407907.1:c.4398_4399insG
NM_001407908.1:c.4398_4399insG
NM_001407909.1:c.4398_4399insG
NM_001407910.1:c.4398_4399insG
NM_001407915.1:c.4395_4396insG
NM_001407916.1:c.4395_4396insG
NM_001407917.1:c.4395_4396insG
NM_001407918.1:c.4395_4396insG
NM_001407919.1:c.4488_4489insG
NM_001407920.1:c.4347_4348insG
NM_001407921.1:c.4347_4348insG
NM_001407922.1:c.4347_4348insG
NM_001407923.1:c.4347_4348insG
NM_001407924.1:c.4347_4348insG
NM_001407925.1:c.4347_4348insG
NM_001407926.1:c.4347_4348insG
NM_001407927.1:c.4344_4345insG
NM_001407928.1:c.4344_4345insG
NM_001407929.1:c.4344_4345insG
NM_001407930.1:c.4344_4345insG
NM_001407931.1:c.4344_4345insG
NM_001407932.1:c.4344_4345insG
NM_001407933.1:c.4344_4345insG
NM_001407934.1:c.4341_4342insG
NM_001407935.1:c.4341_4342insG
NM_001407936.1:c.4341_4342insG
NM_001407937.1:c.4488_4489insG
NM_001407938.1:c.4488_4489insG
NM_001407939.1:c.4485_4486insG
NM_001407940.1:c.4485_4486insG
NM_001407941.1:c.4482_4483insG
NM_001407942.1:c.4470_4471insG
NM_001407943.1:c.4467_4468insG
NM_001407944.1:c.4467_4468insG
NM_001407945.1:c.4467_4468insG
NM_001407946.1:c.4278_4279insG
NM_001407947.1:c.4278_4279insG
NM_001407948.1:c.4278_4279insG
NM_001407949.1:c.4278_4279insG
NM_001407950.1:c.4275_4276insG
NM_001407951.1:c.4275_4276insG
NM_001407952.1:c.4275_4276insG
NM_001407953.1:c.4275_4276insG
NM_001407954.1:c.4275_4276insG
NM_001407955.1:c.4275_4276insG
NM_001407956.1:c.4272_4273insG
NM_001407957.1:c.4272_4273insG
NM_001407958.1:c.4272_4273insG
NM_001407959.1:c.4230_4231insG
NM_001407960.1:c.4227_4228insG
NM_001407962.1:c.4227_4228insG
NM_001407963.1:c.4224_4225insG
NM_001407965.1:c.4104_4105insG
NM_001407966.1:c.3723_3724insG
NM_001407967.1:c.3720_3721insG
NM_001407968.1:c.2007_2008insG
NM_001407969.1:c.2004_2005insG
NM_001407970.1:c.1368_1369insG
NM_001407971.1:c.1368_1369insG
NM_001407972.1:c.1365_1366insG
NM_001407973.1:c.1302_1303insG
NM_001407974.1:c.1302_1303insG
NM_001407975.1:c.1302_1303insG
NM_001407976.1:c.1302_1303insG
NM_001407977.1:c.1302_1303insG
NM_001407978.1:c.1302_1303insG
NM_001407979.1:c.1299_1300insG
NM_001407980.1:c.1299_1300insG
NM_001407981.1:c.1299_1300insG
NM_001407982.1:c.1299_1300insG
NM_001407983.1:c.1299_1300insG
NM_001407984.1:c.1299_1300insG
NM_001407985.1:c.1299_1300insG
NM_001407986.1:c.1299_1300insG
NM_001407990.1:c.1299_1300insG
NM_001407991.1:c.1299_1300insG
NM_001407992.1:c.1299_1300insG
NM_001407993.1:c.1299_1300insG
NM_001408392.1:c.1296_1297insG
NM_001408396.1:c.1296_1297insG
NM_001408397.1:c.1296_1297insG
NM_001408398.1:c.1296_1297insG
NM_001408399.1:c.1296_1297insG
NM_001408400.1:c.1296_1297insG
NM_001408401.1:c.1296_1297insG
NM_001408402.1:c.1296_1297insG
NM_001408403.1:c.1296_1297insG
NM_001408404.1:c.1296_1297insG
NM_001408406.1:c.1293_1294insG
NM_001408407.1:c.1293_1294insG
NM_001408408.1:c.1293_1294insG
NM_001408409.1:c.1290_1291insG
NM_001408410.1:c.1227_1228insG
NM_001408411.1:c.1224_1225insG
NM_001408412.1:c.1221_1222insG
NM_001408413.1:c.1221_1222insG
NM_001408414.1:c.1221_1222insG
NM_001408415.1:c.1221_1222insG
NM_001408416.1:c.1221_1222insG
NM_001408418.1:c.1185_1186insG
NM_001408419.1:c.1185_1186insG
NM_001408420.1:c.1185_1186insG
NM_001408421.1:c.1182_1183insG
NM_001408422.1:c.1182_1183insG
NM_001408423.1:c.1182_1183insG
NM_001408424.1:c.1182_1183insG
NM_001408425.1:c.1179_1180insG
NM_001408426.1:c.1179_1180insG
NM_001408427.1:c.1179_1180insG
NM_001408428.1:c.1179_1180insG
NM_001408429.1:c.1179_1180insG
NM_001408430.1:c.1179_1180insG
NM_001408431.1:c.1179_1180insG
NM_001408432.1:c.1176_1177insG
NM_001408433.1:c.1176_1177insG
NM_001408434.1:c.1176_1177insG
NM_001408435.1:c.1176_1177insG
NM_001408436.1:c.1176_1177insG
NM_001408437.1:c.1176_1177insG
NM_001408438.1:c.1176_1177insG
NM_001408439.1:c.1176_1177insG
NM_001408440.1:c.1176_1177insG
NM_001408441.1:c.1176_1177insG
NM_001408442.1:c.1176_1177insG
NM_001408443.1:c.1176_1177insG
NM_001408444.1:c.1176_1177insG
NM_001408445.1:c.1173_1174insG
NM_001408446.1:c.1173_1174insG
NM_001408447.1:c.1173_1174insG
NM_001408448.1:c.1173_1174insG
NM_001408450.1:c.1173_1174insG
NM_001408451.1:c.1167_1168insG
NM_001408452.1:c.1161_1162insG
NM_001408453.1:c.1161_1162insG
NM_001408454.1:c.1161_1162insG
NM_001408455.1:c.1161_1162insG
NM_001408456.1:c.1161_1162insG
NM_001408457.1:c.1161_1162insG
NM_001408458.1:c.1158_1159insG
NM_001408459.1:c.1158_1159insG
NM_001408460.1:c.1158_1159insG
NM_001408461.1:c.1158_1159insG
NM_001408462.1:c.1158_1159insG
NM_001408463.1:c.1158_1159insG
NM_001408464.1:c.1158_1159insG
NM_001408465.1:c.1158_1159insG
NM_001408466.1:c.1158_1159insG
NM_001408467.1:c.1158_1159insG
NM_001408468.1:c.1155_1156insG
NM_001408469.1:c.1155_1156insG
NM_001408470.1:c.1155_1156insG
NM_001408472.1:c.1299_1300insG
NM_001408473.1:c.1296_1297insG
NM_001408474.1:c.1101_1102insG
NM_001408475.1:c.1098_1099insG
NM_001408476.1:c.1098_1099insG
NM_001408478.1:c.1092_1093insG
NM_001408479.1:c.1092_1093insG
NM_001408480.1:c.1092_1093insG
NM_001408481.1:c.1089_1090insG
NM_001408482.1:c.1089_1090insG
NM_001408483.1:c.1089_1090insG
NM_001408484.1:c.1089_1090insG
NM_001408485.1:c.1089_1090insG
NM_001408489.1:c.1089_1090insG
NM_001408490.1:c.1089_1090insG
NM_001408491.1:c.1089_1090insG
NM_001408492.1:c.1086_1087insG
NM_001408493.1:c.1086_1087insG
NM_001408494.1:c.1062_1063insG
NM_001408495.1:c.1056_1057insG
NM_001408496.1:c.1038_1039insG
NM_001408497.1:c.1038_1039insG
NM_001408498.1:c.1038_1039insG
NM_001408499.1:c.1038_1039insG
NM_001408500.1:c.1038_1039insG
NM_001408501.1:c.1038_1039insG
NM_001408502.1:c.1035_1036insG
NM_001408503.1:c.1035_1036insG
NM_001408504.1:c.1035_1036insG
NM_001408505.1:c.1032_1033insG
NM_001408506.1:c.975_976insG
NM_001408507.1:c.972_973insG
NM_001408508.1:c.963_964insG
NM_001408509.1:c.960_961insG
NM_001408510.1:c.921_922insG
NM_001408511.1:c.918_919insG
NM_001408512.1:c.798_799insG
NM_007294.4:c.4611_4612insGMANE SELECT
NM_007297.4:c.4470_4471insG
NM_007298.4:c.1299_1300insG
NM_007299.4:c.1299_1300insG
NM_007300.4:c.4674_4675insG
NM_007304.2:c.1299_1300insG
NP_001394500.1:p.Gln1467Alafs
NP_001394510.1:p.Gln1560Alafs
NP_001394511.1:p.Gln1560Alafs
NP_001394512.1:p.Gln1559Alafs
NP_001394514.1:p.Gln1559Alafs
NP_001394516.1:p.Gln1559Alafs
NP_001394519.1:p.Gln1558Alafs
NP_001394520.1:p.Gln1558Alafs
NP_001394522.1:p.Gln1538Alafs
NP_001394523.1:p.Gln1538Alafs
NP_001394525.1:p.Gln1538Alafs
NP_001394526.1:p.Gln1538Alafs
NP_001394527.1:p.Gln1538Alafs
NP_001394531.1:p.Gln1538Alafs
NP_001394532.1:p.Gln1538Alafs
NP_001394534.1:p.Gln1538Alafs
NP_001394539.1:p.Gln1537Alafs
NP_001394540.1:p.Gln1537Alafs
NP_001394541.1:p.Gln1537Alafs
NP_001394542.1:p.Gln1537Alafs
NP_001394543.1:p.Gln1537Alafs
NP_001394544.1:p.Gln1537Alafs
NP_001394545.1:p.Gln1537Alafs
NP_001394546.1:p.Gln1537Alafs
NP_001394547.1:p.Gln1537Alafs
NP_001394548.1:p.Gln1537Alafs
NP_001394549.1:p.Gln1537Alafs
NP_001394550.1:p.Gln1537Alafs
NP_001394551.1:p.Gln1537Alafs
NP_001394552.1:p.Gln1537Alafs
NP_001394553.1:p.Gln1537Alafs
NP_001394554.1:p.Gln1537Alafs
NP_001394555.1:p.Gln1537Alafs
NP_001394556.1:p.Gln1536Alafs
NP_001394557.1:p.Gln1536Alafs
NP_001394558.1:p.Gln1536Alafs
NP_001394559.1:p.Gln1536Alafs
NP_001394560.1:p.Gln1536Alafs
NP_001394561.1:p.Gln1536Alafs
NP_001394562.1:p.Gln1536Alafs
NP_001394563.1:p.Gln1536Alafs
NP_001394564.1:p.Gln1536Alafs
NP_001394565.1:p.Gln1536Alafs
NP_001394566.1:p.Gln1536Alafs
NP_001394567.1:p.Gln1536Alafs
NP_001394568.1:p.Gln1536Alafs
NP_001394569.1:p.Gln1536Alafs
NP_001394570.1:p.Gln1536Alafs
NP_001394571.1:p.Gln1536Alafs
NP_001394573.1:p.Gln1535Alafs
NP_001394574.1:p.Gln1535Alafs
NP_001394575.1:p.Gln1534Alafs
NP_001394576.1:p.Gln1533Alafs
NP_001394577.1:p.Gln1519Alafs
NP_001394578.1:p.Gln1518Alafs
NP_001394581.1:p.Gln1538Alafs
NP_001394582.1:p.Gln1512Alafs
NP_001394583.1:p.Gln1512Alafs
NP_001394584.1:p.Gln1512Alafs
NP_001394585.1:p.Gln1511Alafs
NP_001394586.1:p.Gln1511Alafs
NP_001394587.1:p.Gln1511Alafs
NP_001394588.1:p.Gln1510Alafs
NP_001394589.1:p.Gln1510Alafs
NP_001394590.1:p.Gln1510Alafs
NP_001394591.1:p.Gln1510Alafs
NP_001394592.1:p.Gln1510Alafs
NP_001394593.1:p.Gln1497Alafs
NP_001394594.1:p.Gln1497Alafs
NP_001394595.1:p.Gln1497Alafs
NP_001394596.1:p.Gln1497Alafs
NP_001394597.1:p.Gln1497Alafs
NP_001394598.1:p.Gln1497Alafs
NP_001394599.1:p.Gln1496Alafs
NP_001394600.1:p.Gln1496Alafs
NP_001394601.1:p.Gln1496Alafs
NP_001394602.1:p.Gln1496Alafs
NP_001394603.1:p.Gln1496Alafs
NP_001394604.1:p.Gln1496Alafs
NP_001394605.1:p.Gln1496Alafs
NP_001394606.1:p.Gln1496Alafs
NP_001394607.1:p.Gln1496Alafs
NP_001394608.1:p.Gln1496Alafs
NP_001394609.1:p.Gln1496Alafs
NP_001394610.1:p.Gln1495Alafs
NP_001394611.1:p.Gln1495Alafs
NP_001394612.1:p.Gln1495Alafs
NP_001394613.1:p.Gln1538Alafs
NP_001394614.1:p.Gln1495Alafs
NP_001394615.1:p.Gln1495Alafs
NP_001394616.1:p.Gln1495Alafs
NP_001394617.1:p.Gln1495Alafs
NP_001394618.1:p.Gln1495Alafs
NP_001394619.1:p.Gln1494Alafs
NP_001394620.1:p.Gln1494Alafs
NP_001394621.1:p.Gln1491Alafs
NP_001394623.1:p.Gln1491Alafs
NP_001394624.1:p.Gln1491Alafs
NP_001394625.1:p.Gln1491Alafs
NP_001394626.1:p.Gln1491Alafs
NP_001394627.1:p.Gln1491Alafs
NP_001394653.1:p.Gln1491Alafs
NP_001394654.1:p.Gln1491Alafs
NP_001394655.1:p.Gln1491Alafs
NP_001394656.1:p.Gln1491Alafs
NP_001394657.1:p.Gln1491Alafs
NP_001394658.1:p.Gln1491Alafs
NP_001394659.1:p.Gln1491Alafs
NP_001394660.1:p.Gln1491Alafs
NP_001394661.1:p.Gln1490Alafs
NP_001394662.1:p.Gln1490Alafs
NP_001394663.1:p.Gln1490Alafs
NP_001394664.1:p.Gln1490Alafs
NP_001394665.1:p.Gln1490Alafs
NP_001394666.1:p.Gln1490Alafs
NP_001394667.1:p.Gln1490Alafs
NP_001394668.1:p.Gln1490Alafs
NP_001394669.1:p.Gln1490Alafs
NP_001394670.1:p.Gln1490Alafs
NP_001394671.1:p.Gln1490Alafs
NP_001394672.1:p.Gln1490Alafs
NP_001394673.1:p.Gln1490Alafs
NP_001394674.1:p.Gln1490Alafs
NP_001394675.1:p.Gln1490Alafs
NP_001394676.1:p.Gln1490Alafs
NP_001394677.1:p.Gln1490Alafs
NP_001394678.1:p.Gln1490Alafs
NP_001394679.1:p.Gln1490Alafs
NP_001394680.1:p.Gln1490Alafs
NP_001394681.1:p.Gln1490Alafs
NP_001394767.1:p.Gln1489Alafs
NP_001394768.1:p.Gln1489Alafs
NP_001394770.1:p.Gln1489Alafs
NP_001394771.1:p.Gln1489Alafs
NP_001394772.1:p.Gln1489Alafs
NP_001394773.1:p.Gln1489Alafs
NP_001394774.1:p.Gln1489Alafs
NP_001394775.1:p.Gln1489Alafs
NP_001394776.1:p.Gln1489Alafs
NP_001394777.1:p.Gln1489Alafs
NP_001394778.1:p.Gln1489Alafs
NP_001394779.1:p.Gln1489Alafs
NP_001394780.1:p.Gln1489Alafs
NP_001394781.1:p.Gln1489Alafs
NP_001394782.1:p.Gln1489Alafs
NP_001394783.1:p.Gln1538Alafs
NP_001394787.1:p.Gln1537Alafs
NP_001394788.1:p.Gln1537Alafs
NP_001394789.1:p.Gln1537Alafs
NP_001394790.1:p.Gln1536Alafs
NP_001394791.1:p.Gln1471Alafs
NP_001394792.1:p.Gln1496Alafs
NP_001394803.1:p.Gln1469Alafs
NP_001394804.1:p.Gln1469Alafs
NP_001394808.1:p.Gln1468Alafs
NP_001394810.1:p.Gln1468Alafs
NP_001394811.1:p.Gln1468Alafs
NP_001394813.1:p.Gln1468Alafs
NP_001394814.1:p.Gln1468Alafs
NP_001394815.1:p.Gln1468Alafs
NP_001394816.1:p.Gln1468Alafs
NP_001394818.1:p.Gln1468Alafs
NP_001394823.1:p.Gln1467Alafs
NP_001394824.1:p.Gln1467Alafs
NP_001394825.1:p.Gln1467Alafs
NP_001394826.1:p.Gln1467Alafs
NP_001394827.1:p.Gln1467Alafs
NP_001394828.1:p.Gln1467Alafs
NP_001394829.1:p.Gln1467Alafs
NP_001394831.1:p.Gln1467Alafs
NP_001394833.1:p.Gln1467Alafs
NP_001394835.1:p.Gln1467Alafs
NP_001394836.1:p.Gln1467Alafs
NP_001394837.1:p.Gln1467Alafs
NP_001394838.1:p.Gln1467Alafs
NP_001394839.1:p.Gln1467Alafs
NP_001394844.1:p.Gln1466Alafs
NP_001394845.1:p.Gln1466Alafs
NP_001394846.1:p.Gln1466Alafs
NP_001394847.1:p.Gln1466Alafs
NP_001394848.1:p.Gln1497Alafs
NP_001394849.1:p.Gln1450Alafs
NP_001394850.1:p.Gln1450Alafs
NP_001394851.1:p.Gln1450Alafs
NP_001394852.1:p.Gln1450Alafs
NP_001394853.1:p.Gln1450Alafs
NP_001394854.1:p.Gln1450Alafs
NP_001394855.1:p.Gln1450Alafs
NP_001394856.1:p.Gln1449Alafs
NP_001394857.1:p.Gln1449Alafs
NP_001394858.1:p.Gln1449Alafs
NP_001394859.1:p.Gln1449Alafs
NP_001394860.1:p.Gln1449Alafs
NP_001394861.1:p.Gln1449Alafs
NP_001394862.1:p.Gln1449Alafs
NP_001394863.1:p.Gln1448Alafs
NP_001394864.1:p.Gln1448Alafs
NP_001394865.1:p.Gln1448Alafs
NP_001394866.1:p.Gln1497Alafs
NP_001394867.1:p.Gln1497Alafs
NP_001394868.1:p.Gln1496Alafs
NP_001394869.1:p.Gln1496Alafs
NP_001394870.1:p.Gln1495Alafs
NP_001394871.1:p.Gln1491Alafs
NP_001394872.1:p.Gln1490Alafs
NP_001394873.1:p.Gln1490Alafs
NP_001394874.1:p.Gln1490Alafs
NP_001394875.1:p.Gln1427Alafs
NP_001394876.1:p.Gln1427Alafs
NP_001394877.1:p.Gln1427Alafs
NP_001394878.1:p.Gln1427Alafs
NP_001394879.1:p.Gln1426Alafs
NP_001394880.1:p.Gln1426Alafs
NP_001394881.1:p.Gln1426Alafs
NP_001394882.1:p.Gln1426Alafs
NP_001394883.1:p.Gln1426Alafs
NP_001394884.1:p.Gln1426Alafs
NP_001394885.1:p.Gln1425Alafs
NP_001394886.1:p.Gln1425Alafs
NP_001394887.1:p.Gln1425Alafs
NP_001394888.1:p.Gln1411Alafs
NP_001394889.1:p.Gln1410Alafs
NP_001394891.1:p.Gln1410Alafs
NP_001394892.1:p.Gln1409Alafs
NP_001394894.1:p.Gln1369Alafs
NP_001394895.1:p.Gln1242Alafs
NP_001394896.1:p.Gln1241Alafs
NP_001394897.1:p.Gln670Alafs
NP_001394898.1:p.Gln669Alafs
NP_001394899.1:p.Gln457Alafs
NP_001394900.1:p.Gln457Alafs
NP_001394901.1:p.Gln456Alafs
NP_001394902.1:p.Gln435Alafs
NP_001394903.1:p.Gln435Alafs
NP_001394904.1:p.Gln435Alafs
NP_001394905.1:p.Gln435Alafs
NP_001394906.1:p.Gln435Alafs
NP_001394907.1:p.Gln435Alafs
NP_001394908.1:p.Gln434Alafs
NP_001394909.1:p.Gln434Alafs
NP_001394910.1:p.Gln434Alafs
NP_001394911.1:p.Gln434Alafs
NP_001394912.1:p.Gln434Alafs
NP_001394913.1:p.Gln434Alafs
NP_001394914.1:p.Gln434Alafs
NP_001394915.1:p.Gln434Alafs
NP_001394919.1:p.Gln434Alafs
NP_001394920.1:p.Gln434Alafs
NP_001394921.1:p.Gln434Alafs
NP_001394922.1:p.Gln434Alafs
NP_001395321.1:p.Gln433Alafs
NP_001395325.1:p.Gln433Alafs
NP_001395326.1:p.Gln433Alafs
NP_001395327.1:p.Gln433Alafs
NP_001395328.1:p.Gln433Alafs
NP_001395329.1:p.Gln433Alafs
NP_001395330.1:p.Gln433Alafs
NP_001395331.1:p.Gln433Alafs
NP_001395332.1:p.Gln433Alafs
NP_001395333.1:p.Gln433Alafs
NP_001395335.1:p.Gln432Alafs
NP_001395336.1:p.Gln432Alafs
NP_001395337.1:p.Gln432Alafs
NP_001395338.1:p.Gln431Alafs
NP_001395339.1:p.Gln410Alafs
NP_001395340.1:p.Gln409Alafs
NP_001395341.1:p.Gln408Alafs
NP_001395342.1:p.Gln408Alafs
NP_001395343.1:p.Gln408Alafs
NP_001395344.1:p.Gln408Alafs
NP_001395345.1:p.Gln408Alafs
NP_001395347.1:p.Gln396Alafs
NP_001395348.1:p.Gln396Alafs
NP_001395349.1:p.Gln396Alafs
NP_001395350.1:p.Gln395Alafs
NP_001395351.1:p.Gln395Alafs
NP_001395352.1:p.Gln395Alafs
NP_001395353.1:p.Gln395Alafs
NP_001395354.1:p.Gln394Alafs
NP_001395355.1:p.Gln394Alafs
NP_001395356.1:p.Gln394Alafs
NP_001395357.1:p.Gln394Alafs
NP_001395358.1:p.Gln394Alafs
NP_001395359.1:p.Gln394Alafs
NP_001395360.1:p.Gln394Alafs
NP_001395361.1:p.Gln393Alafs
NP_001395362.1:p.Gln393Alafs
NP_001395363.1:p.Gln393Alafs
NP_001395364.1:p.Gln393Alafs
NP_001395365.1:p.Gln393Alafs
NP_001395366.1:p.Gln393Alafs
NP_001395367.1:p.Gln393Alafs
NP_001395368.1:p.Gln393Alafs
NP_001395369.1:p.Gln393Alafs
NP_001395370.1:p.Gln393Alafs
NP_001395371.1:p.Gln393Alafs
NP_001395372.1:p.Gln393Alafs
NP_001395373.1:p.Gln393Alafs
NP_001395374.1:p.Gln392Alafs
NP_001395375.1:p.Gln392Alafs
NP_001395376.1:p.Gln392Alafs
NP_001395377.1:p.Gln392Alafs
NP_001395379.1:p.Gln392Alafs
NP_001395380.1:p.Gln390Alafs
NP_001395381.1:p.Gln388Alafs
NP_001395382.1:p.Gln388Alafs
NP_001395383.1:p.Gln388Alafs
NP_001395384.1:p.Gln388Alafs
NP_001395385.1:p.Gln388Alafs
NP_001395386.1:p.Gln388Alafs
NP_001395387.1:p.Gln387Alafs
NP_001395388.1:p.Gln387Alafs
NP_001395389.1:p.Gln387Alafs
NP_001395390.1:p.Gln387Alafs
NP_001395391.1:p.Gln387Alafs
NP_001395392.1:p.Gln387Alafs
NP_001395393.1:p.Gln387Alafs
NP_001395394.1:p.Gln387Alafs
NP_001395395.1:p.Gln387Alafs
NP_001395396.1:p.Gln387Alafs
NP_001395397.1:p.Gln386Alafs
NP_001395398.1:p.Gln386Alafs
NP_001395399.1:p.Gln386Alafs
NP_001395401.1:p.Gln434Alafs
NP_001395402.1:p.Gln433Alafs
NP_001395403.1:p.Gln368Alafs
NP_001395404.1:p.Gln367Alafs
NP_001395405.1:p.Gln367Alafs
NP_001395407.1:p.Gln365Alafs
NP_001395408.1:p.Gln365Alafs
NP_001395409.1:p.Gln365Alafs
NP_001395410.1:p.Gln364Alafs
NP_001395411.1:p.Gln364Alafs
NP_001395412.1:p.Gln364Alafs
NP_001395413.1:p.Gln364Alafs
NP_001395414.1:p.Gln364Alafs
NP_001395418.1:p.Gln364Alafs
NP_001395419.1:p.Gln364Alafs
NP_001395420.1:p.Gln364Alafs
NP_001395421.1:p.Gln363Alafs
NP_001395422.1:p.Gln363Alafs
NP_001395423.1:p.Gln355Alafs
NP_001395424.1:p.Gln353Alafs
NP_001395425.1:p.Gln347Alafs
NP_001395426.1:p.Gln347Alafs
NP_001395427.1:p.Gln347Alafs
NP_001395428.1:p.Gln347Alafs
NP_001395429.1:p.Gln347Alafs
NP_001395430.1:p.Gln347Alafs
NP_001395431.1:p.Gln346Alafs
NP_001395432.1:p.Gln346Alafs
NP_001395433.1:p.Gln346Alafs
NP_001395434.1:p.Gln345Alafs
NP_001395435.1:p.Gln326Alafs
NP_001395436.1:p.Gln325Alafs
NP_001395437.1:p.Gln322Alafs
NP_001395438.1:p.Gln321Alafs
NP_001395439.1:p.Gln308Alafs
NP_001395440.1:p.Gln307Alafs
NP_001395441.1:p.Gln267Alafs
NP_009225.1:p.Gln1538Alafs
NP_009225.1:p.Gln1538fs
NP_009228.2:p.Gln1491fs
NP_009229.2:p.Gln434Alafs
NP_009229.2:p.Gln434fs
NP_009230.2:p.Gln434fs
NP_009231.2:p.Gln1559fs
NP_009235.2:p.Gln434Alafs
LRG_292t1:c.4611_4612insG
LRG_292:g.143589_143590insG
LRG_292p1:p.Gln1538Alafs
NC_000017.10:g.41226411_41226412insC
NM_007294.3:c.4611_4612insG
NM_007298.3:c.1299_1300insG
NR_027676.2:n.4788_4789insG
U14680.1:n.4730_4731insG
p.Gln1538Alafs*36
p.Q1537QFS*37

Protein change:

Q1491fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 4730&base_change=ins G; dbSNP: rs80357915

NCBI 1000 Genomes Browser:

rs80357915

Molecular consequence:

NM_001407571.1:c.4398_4399insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.4677_4678insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.4677_4678insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.4674_4675insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.4674_4675insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.4674_4675insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.4671_4672insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.4671_4672insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.4611_4612insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.4611_4612insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.4611_4612insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.4611_4612insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.4611_4612insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.4611_4612insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.4611_4612insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.4611_4612insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.4608_4609insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.4608_4609insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.4608_4609insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.4608_4609insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.4608_4609insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.4608_4609insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.4608_4609insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.4608_4609insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.4608_4609insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.4608_4609insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.4608_4609insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.4608_4609insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.4608_4609insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.4608_4609insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.4608_4609insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.4608_4609insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.4608_4609insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.4605_4606insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.4605_4606insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.4605_4606insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.4605_4606insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.4605_4606insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.4605_4606insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.4605_4606insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.4605_4606insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.4605_4606insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.4605_4606insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.4605_4606insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.4605_4606insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.4605_4606insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.4605_4606insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.4605_4606insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.4605_4606insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.4602_4603insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.4602_4603insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.4599_4600insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.4596_4597insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.4554_4555insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.4551_4552insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.4611_4612insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.4533_4534insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.4533_4534insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.4533_4534insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.4530_4531insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.4530_4531insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.4530_4531insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.4527_4528insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.4527_4528insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.4527_4528insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.4527_4528insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.4527_4528insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.4488_4489insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.4488_4489insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.4488_4489insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.4488_4489insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.4488_4489insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.4488_4489insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.4485_4486insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.4485_4486insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.4485_4486insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.4485_4486insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.4485_4486insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.4485_4486insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.4485_4486insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.4485_4486insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.4485_4486insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.4485_4486insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.4485_4486insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.4482_4483insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.4482_4483insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.4482_4483insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.4611_4612insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.4482_4483insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.4482_4483insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.4482_4483insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.4482_4483insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.4482_4483insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.4479_4480insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.4479_4480insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.4470_4471insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.4470_4471insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.4470_4471insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.4470_4471insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.4470_4471insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.4470_4471insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.4470_4471insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.4470_4471insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.4470_4471insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.4470_4471insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.4470_4471insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.4470_4471insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.4470_4471insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.4470_4471insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.4467_4468insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.4467_4468insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.4467_4468insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.4467_4468insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.4467_4468insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.4467_4468insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.4467_4468insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.4467_4468insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.4467_4468insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.4467_4468insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.4467_4468insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.4467_4468insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.4467_4468insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.4467_4468insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.4467_4468insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.4467_4468insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.4467_4468insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.4467_4468insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.4467_4468insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.4467_4468insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.4467_4468insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.4464_4465insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.4464_4465insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.4464_4465insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.4464_4465insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.4464_4465insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.4464_4465insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.4464_4465insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.4464_4465insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.4464_4465insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.4464_4465insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.4464_4465insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.4464_4465insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.4464_4465insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.4464_4465insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.4464_4465insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.4611_4612insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.4608_4609insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.4608_4609insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.4608_4609insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.4605_4606insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.4410_4411insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.4485_4486insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.4404_4405insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.4404_4405insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.4401_4402insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.4401_4402insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.4401_4402insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.4401_4402insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.4401_4402insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.4401_4402insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.4401_4402insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.4401_4402insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.4398_4399insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.4398_4399insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.4398_4399insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.4398_4399insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.4398_4399insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.4398_4399insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.4398_4399insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.4398_4399insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.4398_4399insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.4398_4399insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.4398_4399insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.4398_4399insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.4398_4399insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.4398_4399insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.4395_4396insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.4395_4396insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.4395_4396insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.4395_4396insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.4488_4489insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.4347_4348insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.4347_4348insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.4347_4348insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.4347_4348insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.4347_4348insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.4347_4348insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.4347_4348insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.4344_4345insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.4344_4345insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.4344_4345insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.4344_4345insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.4344_4345insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.4344_4345insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.4344_4345insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.4341_4342insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.4341_4342insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.4341_4342insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.4488_4489insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.4488_4489insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.4485_4486insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.4485_4486insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.4482_4483insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.4470_4471insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.4467_4468insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.4467_4468insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.4467_4468insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.4278_4279insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.4278_4279insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.4278_4279insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.4278_4279insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.4275_4276insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.4275_4276insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.4275_4276insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.4275_4276insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.4275_4276insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.4275_4276insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.4272_4273insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.4272_4273insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.4272_4273insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.4230_4231insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.4227_4228insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.4227_4228insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.4224_4225insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.4104_4105insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.3723_3724insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.3720_3721insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.2007_2008insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407969.1:c.2004_2005insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407970.1:c.1368_1369insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407971.1:c.1368_1369insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407972.1:c.1365_1366insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407973.1:c.1302_1303insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407974.1:c.1302_1303insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407975.1:c.1302_1303insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407976.1:c.1302_1303insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407977.1:c.1302_1303insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407978.1:c.1302_1303insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407979.1:c.1299_1300insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407980.1:c.1299_1300insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407981.1:c.1299_1300insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407982.1:c.1299_1300insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407983.1:c.1299_1300insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407984.1:c.1299_1300insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407985.1:c.1299_1300insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407986.1:c.1299_1300insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407990.1:c.1299_1300insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407991.1:c.1299_1300insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407992.1:c.1299_1300insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407993.1:c.1299_1300insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408392.1:c.1296_1297insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408396.1:c.1296_1297insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408397.1:c.1296_1297insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408398.1:c.1296_1297insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408399.1:c.1296_1297insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408400.1:c.1296_1297insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408401.1:c.1296_1297insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408402.1:c.1296_1297insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408403.1:c.1296_1297insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408404.1:c.1296_1297insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408406.1:c.1293_1294insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408407.1:c.1293_1294insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408408.1:c.1293_1294insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408409.1:c.1290_1291insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408410.1:c.1227_1228insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408411.1:c.1224_1225insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408412.1:c.1221_1222insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408413.1:c.1221_1222insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408414.1:c.1221_1222insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408415.1:c.1221_1222insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408416.1:c.1221_1222insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408418.1:c.1185_1186insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408419.1:c.1185_1186insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408420.1:c.1185_1186insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408421.1:c.1182_1183insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408422.1:c.1182_1183insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408423.1:c.1182_1183insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408424.1:c.1182_1183insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408425.1:c.1179_1180insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408426.1:c.1179_1180insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408427.1:c.1179_1180insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408428.1:c.1179_1180insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408429.1:c.1179_1180insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408430.1:c.1179_1180insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408431.1:c.1179_1180insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408432.1:c.1176_1177insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408433.1:c.1176_1177insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408434.1:c.1176_1177insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408435.1:c.1176_1177insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408436.1:c.1176_1177insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408437.1:c.1176_1177insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408438.1:c.1176_1177insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408439.1:c.1176_1177insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408440.1:c.1176_1177insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408441.1:c.1176_1177insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408442.1:c.1176_1177insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408443.1:c.1176_1177insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408444.1:c.1176_1177insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408445.1:c.1173_1174insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408446.1:c.1173_1174insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408447.1:c.1173_1174insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408448.1:c.1173_1174insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408450.1:c.1173_1174insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408451.1:c.1167_1168insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408452.1:c.1161_1162insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408453.1:c.1161_1162insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408454.1:c.1161_1162insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408455.1:c.1161_1162insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408456.1:c.1161_1162insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408457.1:c.1161_1162insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408458.1:c.1158_1159insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408459.1:c.1158_1159insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408460.1:c.1158_1159insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408461.1:c.1158_1159insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408462.1:c.1158_1159insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408463.1:c.1158_1159insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408464.1:c.1158_1159insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408465.1:c.1158_1159insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408466.1:c.1158_1159insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408467.1:c.1158_1159insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408468.1:c.1155_1156insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408469.1:c.1155_1156insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408470.1:c.1155_1156insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408472.1:c.1299_1300insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408473.1:c.1296_1297insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408474.1:c.1101_1102insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408475.1:c.1098_1099insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408476.1:c.1098_1099insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408478.1:c.1092_1093insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408479.1:c.1092_1093insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408480.1:c.1092_1093insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408481.1:c.1089_1090insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408482.1:c.1089_1090insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408483.1:c.1089_1090insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408484.1:c.1089_1090insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408485.1:c.1089_1090insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408489.1:c.1089_1090insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408490.1:c.1089_1090insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408491.1:c.1089_1090insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408492.1:c.1086_1087insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408493.1:c.1086_1087insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408494.1:c.1062_1063insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408495.1:c.1056_1057insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408496.1:c.1038_1039insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408497.1:c.1038_1039insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408498.1:c.1038_1039insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408499.1:c.1038_1039insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408500.1:c.1038_1039insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408501.1:c.1038_1039insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408502.1:c.1035_1036insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408503.1:c.1035_1036insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408504.1:c.1035_1036insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408505.1:c.1032_1033insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408506.1:c.975_976insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408507.1:c.972_973insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408508.1:c.963_964insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408509.1:c.960_961insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408510.1:c.921_922insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408511.1:c.918_919insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408512.1:c.798_799insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.4611_4612insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.4470_4471insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007298.4:c.1299_1300insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007299.4:c.1299_1300insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.4674_4675insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007304.2:c.1299_1300insG - frameshift variant - [Sequence Ontology: SO:0001589]
NR_027676.2:n.4788_4789insG - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000186938	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jan 23, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV001348223	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 26, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 20838878, 29446198, 33285109, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000186938

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jan 23, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link,

SCV001348223

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 26, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A high prevalence of BRCA1 mutations among breast cancer patients from the Bahamas.

Donenberg T, Lunn J, Curling D, Turnquest T, Krill-Jackson E, Royer R, Narod SA, Hurley J.

Breast Cancer Res Treat. 2011 Jan;125(2):591-6. doi: 10.1007/s10549-010-1156-9. Epub 2010 Sep 14.

PubMed [citation]

PMID:: 20838878

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, et al.

Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.

PubMed [citation]

PMID:: 29446198
PMCID:: PMC5903938

See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000186938.9

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The c.4611_4612insG pathogenic mutation, located in coding exon 13 of the BRCA1 gene, results from an insertion of one nucleotide at position 4611, causing a translational frameshift with a predicted alternate stop codon (p.Q1538Afs*36). This mutation has been detected in multiple individuals with hereditary breast and/or ovarian cancer (Donenberg T et al. Breast Cancer Res Treat. 2011 Jan;125:591-6; Narod et al. Mol Genet Genomic Med 2018 03;6(2):301-304; Rebbeck et al. Hum. Mutat. 2018 05;39(5):593-620). Of note, this alteration is also designated as 4730insG in published literature. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Color Diagnostics, LLC DBA Color Health, SCV001348223.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This variant inserts 1 nucleotide in exon 14 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in 7 individuals affected with breast cancer (PMID: 20838878, 33285109) and in 1 family among the CIMBA participants (PMID: 29446198). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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