NM_007294.4(BRCA1):c.4754_4755del (p.Pro1585fs) AND Hereditary breast ovarian cancer syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jun 5, 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:: RCV000607763.18

Allele description

NM_007294.4(BRCA1):c.4754_4755del (p.Pro1585fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.4754_4755del (p.Pro1585fs)

Other names:

4873delCA

HGVS:

NC_000017.11:g.43071159_43071160del
NG_005905.2:g.146824_146825del
NM_001407571.1:c.4541_4542delCA
NM_001407581.1:c.4820_4821delCA
NM_001407582.1:c.4820_4821delCA
NM_001407583.1:c.4817_4818delCA
NM_001407585.1:c.4817_4818delCA
NM_001407587.1:c.4817_4818delCA
NM_001407590.1:c.4814_4815delCA
NM_001407591.1:c.4814_4815delCA
NM_001407593.1:c.4754_4755delCA
NM_001407594.1:c.4754_4755delCA
NM_001407596.1:c.4754_4755delCA
NM_001407597.1:c.4754_4755delCA
NM_001407598.1:c.4754_4755delCA
NM_001407602.1:c.4754_4755delCA
NM_001407603.1:c.4754_4755delCA
NM_001407605.1:c.4754_4755delCA
NM_001407610.1:c.4751_4752delCA
NM_001407611.1:c.4751_4752delCA
NM_001407612.1:c.4751_4752delCA
NM_001407613.1:c.4751_4752delCA
NM_001407614.1:c.4751_4752delCA
NM_001407615.1:c.4751_4752delCA
NM_001407616.1:c.4751_4752delCA
NM_001407617.1:c.4751_4752delCA
NM_001407618.1:c.4751_4752delCA
NM_001407619.1:c.4751_4752delCA
NM_001407620.1:c.4751_4752delCA
NM_001407621.1:c.4751_4752delCA
NM_001407622.1:c.4751_4752delCA
NM_001407623.1:c.4751_4752delCA
NM_001407624.1:c.4751_4752delCA
NM_001407625.1:c.4751_4752delCA
NM_001407626.1:c.4751_4752delCA
NM_001407627.1:c.4748_4749delCA
NM_001407628.1:c.4748_4749delCA
NM_001407629.1:c.4748_4749delCA
NM_001407630.1:c.4748_4749delCA
NM_001407631.1:c.4748_4749delCA
NM_001407632.1:c.4748_4749delCA
NM_001407633.1:c.4748_4749delCA
NM_001407634.1:c.4748_4749delCA
NM_001407635.1:c.4748_4749delCA
NM_001407636.1:c.4748_4749delCA
NM_001407637.1:c.4748_4749delCA
NM_001407638.1:c.4748_4749delCA
NM_001407639.1:c.4748_4749delCA
NM_001407640.1:c.4748_4749delCA
NM_001407641.1:c.4748_4749delCA
NM_001407642.1:c.4748_4749delCA
NM_001407644.1:c.4745_4746delCA
NM_001407645.1:c.4745_4746delCA
NM_001407646.1:c.4742_4743delCA
NM_001407647.1:c.4739_4740delCA
NM_001407648.1:c.4697_4698delCA
NM_001407649.1:c.4694_4695delCA
NM_001407652.1:c.4754_4755delCA
NM_001407653.1:c.4676_4677delCA
NM_001407654.1:c.4676_4677delCA
NM_001407655.1:c.4676_4677delCA
NM_001407656.1:c.4673_4674delCA
NM_001407657.1:c.4673_4674delCA
NM_001407658.1:c.4673_4674delCA
NM_001407659.1:c.4670_4671delCA
NM_001407660.1:c.4670_4671delCA
NM_001407661.1:c.4670_4671delCA
NM_001407662.1:c.4670_4671delCA
NM_001407663.1:c.4670_4671delCA
NM_001407664.1:c.4631_4632delCA
NM_001407665.1:c.4631_4632delCA
NM_001407666.1:c.4631_4632delCA
NM_001407667.1:c.4631_4632delCA
NM_001407668.1:c.4631_4632delCA
NM_001407669.1:c.4631_4632delCA
NM_001407670.1:c.4628_4629delCA
NM_001407671.1:c.4628_4629delCA
NM_001407672.1:c.4628_4629delCA
NM_001407673.1:c.4628_4629delCA
NM_001407674.1:c.4628_4629delCA
NM_001407675.1:c.4628_4629delCA
NM_001407676.1:c.4628_4629delCA
NM_001407677.1:c.4628_4629delCA
NM_001407678.1:c.4628_4629delCA
NM_001407679.1:c.4628_4629delCA
NM_001407680.1:c.4628_4629delCA
NM_001407681.1:c.4625_4626delCA
NM_001407682.1:c.4625_4626delCA
NM_001407683.1:c.4625_4626delCA
NM_001407684.1:c.4754_4755delCA
NM_001407685.1:c.4625_4626delCA
NM_001407686.1:c.4625_4626delCA
NM_001407687.1:c.4625_4626delCA
NM_001407688.1:c.4625_4626delCA
NM_001407689.1:c.4625_4626delCA
NM_001407690.1:c.4622_4623delCA
NM_001407691.1:c.4622_4623delCA
NM_001407692.1:c.4613_4614delCA
NM_001407694.1:c.4613_4614delCA
NM_001407695.1:c.4613_4614delCA
NM_001407696.1:c.4613_4614delCA
NM_001407697.1:c.4613_4614delCA
NM_001407698.1:c.4613_4614delCA
NM_001407724.1:c.4613_4614delCA
NM_001407725.1:c.4613_4614delCA
NM_001407726.1:c.4613_4614delCA
NM_001407727.1:c.4613_4614delCA
NM_001407728.1:c.4613_4614delCA
NM_001407729.1:c.4613_4614delCA
NM_001407730.1:c.4613_4614delCA
NM_001407731.1:c.4613_4614delCA
NM_001407732.1:c.4610_4611delCA
NM_001407733.1:c.4610_4611delCA
NM_001407734.1:c.4610_4611delCA
NM_001407735.1:c.4610_4611delCA
NM_001407736.1:c.4610_4611delCA
NM_001407737.1:c.4610_4611delCA
NM_001407738.1:c.4610_4611delCA
NM_001407739.1:c.4610_4611delCA
NM_001407740.1:c.4610_4611delCA
NM_001407741.1:c.4610_4611delCA
NM_001407742.1:c.4610_4611delCA
NM_001407743.1:c.4610_4611delCA
NM_001407744.1:c.4610_4611delCA
NM_001407745.1:c.4610_4611delCA
NM_001407746.1:c.4610_4611delCA
NM_001407747.1:c.4610_4611delCA
NM_001407748.1:c.4610_4611delCA
NM_001407749.1:c.4610_4611delCA
NM_001407750.1:c.4610_4611delCA
NM_001407751.1:c.4610_4611delCA
NM_001407752.1:c.4610_4611delCA
NM_001407838.1:c.4607_4608delCA
NM_001407839.1:c.4607_4608delCA
NM_001407841.1:c.4607_4608delCA
NM_001407842.1:c.4607_4608delCA
NM_001407843.1:c.4607_4608delCA
NM_001407844.1:c.4607_4608delCA
NM_001407845.1:c.4607_4608delCA
NM_001407846.1:c.4607_4608delCA
NM_001407847.1:c.4607_4608delCA
NM_001407848.1:c.4607_4608delCA
NM_001407849.1:c.4607_4608delCA
NM_001407850.1:c.4607_4608delCA
NM_001407851.1:c.4607_4608delCA
NM_001407852.1:c.4607_4608delCA
NM_001407853.1:c.4607_4608delCA
NM_001407854.1:c.4754_4755delCA
NM_001407858.1:c.4751_4752delCA
NM_001407859.1:c.4751_4752delCA
NM_001407860.1:c.4751_4752delCA
NM_001407861.1:c.4748_4749delCA
NM_001407862.1:c.4553_4554delCA
NM_001407863.1:c.4628_4629delCA
NM_001407874.1:c.4547_4548delCA
NM_001407875.1:c.4547_4548delCA
NM_001407879.1:c.4544_4545delCA
NM_001407881.1:c.4544_4545delCA
NM_001407882.1:c.4544_4545delCA
NM_001407884.1:c.4544_4545delCA
NM_001407885.1:c.4544_4545delCA
NM_001407886.1:c.4544_4545delCA
NM_001407887.1:c.4544_4545delCA
NM_001407889.1:c.4544_4545delCA
NM_001407894.1:c.4541_4542delCA
NM_001407895.1:c.4541_4542delCA
NM_001407896.1:c.4541_4542delCA
NM_001407897.1:c.4541_4542delCA
NM_001407898.1:c.4541_4542delCA
NM_001407899.1:c.4541_4542delCA
NM_001407900.1:c.4541_4542delCA
NM_001407902.1:c.4541_4542delCA
NM_001407904.1:c.4541_4542delCA
NM_001407906.1:c.4541_4542delCA
NM_001407907.1:c.4541_4542delCA
NM_001407908.1:c.4541_4542delCA
NM_001407909.1:c.4541_4542delCA
NM_001407910.1:c.4541_4542delCA
NM_001407915.1:c.4538_4539delCA
NM_001407916.1:c.4538_4539delCA
NM_001407917.1:c.4538_4539delCA
NM_001407918.1:c.4538_4539delCA
NM_001407919.1:c.4631_4632delCA
NM_001407920.1:c.4490_4491delCA
NM_001407921.1:c.4490_4491delCA
NM_001407922.1:c.4490_4491delCA
NM_001407923.1:c.4490_4491delCA
NM_001407924.1:c.4490_4491delCA
NM_001407925.1:c.4490_4491delCA
NM_001407926.1:c.4490_4491delCA
NM_001407927.1:c.4487_4488delCA
NM_001407928.1:c.4487_4488delCA
NM_001407929.1:c.4487_4488delCA
NM_001407930.1:c.4487_4488delCA
NM_001407931.1:c.4487_4488delCA
NM_001407932.1:c.4487_4488delCA
NM_001407933.1:c.4487_4488delCA
NM_001407934.1:c.4484_4485delCA
NM_001407935.1:c.4484_4485delCA
NM_001407936.1:c.4484_4485delCA
NM_001407937.1:c.4631_4632delCA
NM_001407938.1:c.4631_4632delCA
NM_001407939.1:c.4628_4629delCA
NM_001407940.1:c.4628_4629delCA
NM_001407941.1:c.4625_4626delCA
NM_001407942.1:c.4613_4614delCA
NM_001407943.1:c.4610_4611delCA
NM_001407944.1:c.4610_4611delCA
NM_001407945.1:c.4610_4611delCA
NM_001407946.1:c.4421_4422delCA
NM_001407947.1:c.4421_4422delCA
NM_001407948.1:c.4421_4422delCA
NM_001407949.1:c.4421_4422delCA
NM_001407950.1:c.4418_4419delCA
NM_001407951.1:c.4418_4419delCA
NM_001407952.1:c.4418_4419delCA
NM_001407953.1:c.4418_4419delCA
NM_001407954.1:c.4418_4419delCA
NM_001407955.1:c.4418_4419delCA
NM_001407956.1:c.4415_4416delCA
NM_001407957.1:c.4415_4416delCA
NM_001407958.1:c.4415_4416delCA
NM_001407959.1:c.4373_4374delCA
NM_001407960.1:c.4370_4371delCA
NM_001407962.1:c.4370_4371delCA
NM_001407963.1:c.4367_4368delCA
NM_001407964.1:c.4292_4293delCA
NM_001407965.1:c.4247_4248delCA
NM_001407966.1:c.3866_3867delCA
NM_001407967.1:c.3863_3864delCA
NM_001407968.1:c.2150_2151delCA
NM_001407969.1:c.2147_2148delCA
NM_001407970.1:c.1511_1512delCA
NM_001407971.1:c.1511_1512delCA
NM_001407972.1:c.1508_1509delCA
NM_001407973.1:c.1445_1446delCA
NM_001407974.1:c.1445_1446delCA
NM_001407975.1:c.1445_1446delCA
NM_001407976.1:c.1445_1446delCA
NM_001407977.1:c.1445_1446delCA
NM_001407978.1:c.1445_1446delCA
NM_001407979.1:c.1442_1443delCA
NM_001407980.1:c.1442_1443delCA
NM_001407981.1:c.1442_1443delCA
NM_001407982.1:c.1442_1443delCA
NM_001407983.1:c.1442_1443delCA
NM_001407984.1:c.1442_1443delCA
NM_001407985.1:c.1442_1443delCA
NM_001407986.1:c.1442_1443delCA
NM_001407990.1:c.1442_1443delCA
NM_001407991.1:c.1442_1443delCA
NM_001407992.1:c.1442_1443delCA
NM_001407993.1:c.1442_1443delCA
NM_001408392.1:c.1439_1440delCA
NM_001408396.1:c.1439_1440delCA
NM_001408397.1:c.1439_1440delCA
NM_001408398.1:c.1439_1440delCA
NM_001408399.1:c.1439_1440delCA
NM_001408400.1:c.1439_1440delCA
NM_001408401.1:c.1439_1440delCA
NM_001408402.1:c.1439_1440delCA
NM_001408403.1:c.1439_1440delCA
NM_001408404.1:c.1439_1440delCA
NM_001408406.1:c.1436_1437delCA
NM_001408407.1:c.1436_1437delCA
NM_001408408.1:c.1436_1437delCA
NM_001408409.1:c.1433_1434delCA
NM_001408410.1:c.1370_1371delCA
NM_001408411.1:c.1367_1368delCA
NM_001408412.1:c.1364_1365delCA
NM_001408413.1:c.1364_1365delCA
NM_001408414.1:c.1364_1365delCA
NM_001408415.1:c.1364_1365delCA
NM_001408416.1:c.1364_1365delCA
NM_001408418.1:c.1328_1329delCA
NM_001408419.1:c.1328_1329delCA
NM_001408420.1:c.1328_1329delCA
NM_001408421.1:c.1325_1326delCA
NM_001408422.1:c.1325_1326delCA
NM_001408423.1:c.1325_1326delCA
NM_001408424.1:c.1325_1326delCA
NM_001408425.1:c.1322_1323delCA
NM_001408426.1:c.1322_1323delCA
NM_001408427.1:c.1322_1323delCA
NM_001408428.1:c.1322_1323delCA
NM_001408429.1:c.1322_1323delCA
NM_001408430.1:c.1322_1323delCA
NM_001408431.1:c.1322_1323delCA
NM_001408432.1:c.1319_1320delCA
NM_001408433.1:c.1319_1320delCA
NM_001408434.1:c.1319_1320delCA
NM_001408435.1:c.1319_1320delCA
NM_001408436.1:c.1319_1320delCA
NM_001408437.1:c.1319_1320delCA
NM_001408438.1:c.1319_1320delCA
NM_001408439.1:c.1319_1320delCA
NM_001408440.1:c.1319_1320delCA
NM_001408441.1:c.1319_1320delCA
NM_001408442.1:c.1319_1320delCA
NM_001408443.1:c.1319_1320delCA
NM_001408444.1:c.1319_1320delCA
NM_001408445.1:c.1316_1317delCA
NM_001408446.1:c.1316_1317delCA
NM_001408447.1:c.1316_1317delCA
NM_001408448.1:c.1316_1317delCA
NM_001408450.1:c.1316_1317delCA
NM_001408451.1:c.1310_1311delCA
NM_001408452.1:c.1304_1305delCA
NM_001408453.1:c.1304_1305delCA
NM_001408454.1:c.1304_1305delCA
NM_001408455.1:c.1304_1305delCA
NM_001408456.1:c.1304_1305delCA
NM_001408457.1:c.1304_1305delCA
NM_001408458.1:c.1301_1302delCA
NM_001408459.1:c.1301_1302delCA
NM_001408460.1:c.1301_1302delCA
NM_001408461.1:c.1301_1302delCA
NM_001408462.1:c.1301_1302delCA
NM_001408463.1:c.1301_1302delCA
NM_001408464.1:c.1301_1302delCA
NM_001408465.1:c.1301_1302delCA
NM_001408466.1:c.1301_1302delCA
NM_001408467.1:c.1301_1302delCA
NM_001408468.1:c.1298_1299delCA
NM_001408469.1:c.1298_1299delCA
NM_001408470.1:c.1298_1299delCA
NM_001408472.1:c.1442_1443delCA
NM_001408473.1:c.1439_1440delCA
NM_001408474.1:c.1244_1245delCA
NM_001408475.1:c.1241_1242delCA
NM_001408476.1:c.1241_1242delCA
NM_001408478.1:c.1235_1236delCA
NM_001408479.1:c.1235_1236delCA
NM_001408480.1:c.1235_1236delCA
NM_001408481.1:c.1232_1233delCA
NM_001408482.1:c.1232_1233delCA
NM_001408483.1:c.1232_1233delCA
NM_001408484.1:c.1232_1233delCA
NM_001408485.1:c.1232_1233delCA
NM_001408489.1:c.1232_1233delCA
NM_001408490.1:c.1232_1233delCA
NM_001408491.1:c.1232_1233delCA
NM_001408492.1:c.1229_1230delCA
NM_001408493.1:c.1229_1230delCA
NM_001408494.1:c.1205_1206delCA
NM_001408495.1:c.1199_1200delCA
NM_001408496.1:c.1181_1182delCA
NM_001408497.1:c.1181_1182delCA
NM_001408498.1:c.1181_1182delCA
NM_001408499.1:c.1181_1182delCA
NM_001408500.1:c.1181_1182delCA
NM_001408501.1:c.1181_1182delCA
NM_001408502.1:c.1178_1179delCA
NM_001408503.1:c.1178_1179delCA
NM_001408504.1:c.1178_1179delCA
NM_001408505.1:c.1175_1176delCA
NM_001408506.1:c.1118_1119delCA
NM_001408507.1:c.1115_1116delCA
NM_001408508.1:c.1106_1107delCA
NM_001408509.1:c.1103_1104delCA
NM_001408510.1:c.1064_1065delCA
NM_001408511.1:c.1061_1062delCA
NM_001408512.1:c.941_942delCA
NM_001408513.1:c.914_915delCA
NM_007294.4:c.4754_4755delMANE SELECT
NM_007297.4:c.4613_4614del
NM_007298.4:c.1442_1443delCA
NM_007299.4:c.1442_1443del
NM_007300.4:c.4817_4818del
NM_007304.2:c.1442_1443delCA
NP_001394500.1:p.Pro1514Argfs
NP_001394510.1:p.Pro1607Argfs
NP_001394511.1:p.Pro1607Argfs
NP_001394512.1:p.Pro1606Argfs
NP_001394514.1:p.Pro1606Argfs
NP_001394516.1:p.Pro1606Argfs
NP_001394519.1:p.Pro1605Argfs
NP_001394520.1:p.Pro1605Argfs
NP_001394522.1:p.Pro1585Argfs
NP_001394523.1:p.Pro1585Argfs
NP_001394525.1:p.Pro1585Argfs
NP_001394526.1:p.Pro1585Argfs
NP_001394527.1:p.Pro1585Argfs
NP_001394531.1:p.Pro1585Argfs
NP_001394532.1:p.Pro1585Argfs
NP_001394534.1:p.Pro1585Argfs
NP_001394539.1:p.Pro1584Argfs
NP_001394540.1:p.Pro1584Argfs
NP_001394541.1:p.Pro1584Argfs
NP_001394542.1:p.Pro1584Argfs
NP_001394543.1:p.Pro1584Argfs
NP_001394544.1:p.Pro1584Argfs
NP_001394545.1:p.Pro1584Argfs
NP_001394546.1:p.Pro1584Argfs
NP_001394547.1:p.Pro1584Argfs
NP_001394548.1:p.Pro1584Argfs
NP_001394549.1:p.Pro1584Argfs
NP_001394550.1:p.Pro1584Argfs
NP_001394551.1:p.Pro1584Argfs
NP_001394552.1:p.Pro1584Argfs
NP_001394553.1:p.Pro1584Argfs
NP_001394554.1:p.Pro1584Argfs
NP_001394555.1:p.Pro1584Argfs
NP_001394556.1:p.Pro1583Argfs
NP_001394557.1:p.Pro1583Argfs
NP_001394558.1:p.Pro1583Argfs
NP_001394559.1:p.Pro1583Argfs
NP_001394560.1:p.Pro1583Argfs
NP_001394561.1:p.Pro1583Argfs
NP_001394562.1:p.Pro1583Argfs
NP_001394563.1:p.Pro1583Argfs
NP_001394564.1:p.Pro1583Argfs
NP_001394565.1:p.Pro1583Argfs
NP_001394566.1:p.Pro1583Argfs
NP_001394567.1:p.Pro1583Argfs
NP_001394568.1:p.Pro1583Argfs
NP_001394569.1:p.Pro1583Argfs
NP_001394570.1:p.Pro1583Argfs
NP_001394571.1:p.Pro1583Argfs
NP_001394573.1:p.Pro1582Argfs
NP_001394574.1:p.Pro1582Argfs
NP_001394575.1:p.Pro1581Argfs
NP_001394576.1:p.Pro1580Argfs
NP_001394577.1:p.Pro1566Argfs
NP_001394578.1:p.Pro1565Argfs
NP_001394581.1:p.Pro1585Argfs
NP_001394582.1:p.Pro1559Argfs
NP_001394583.1:p.Pro1559Argfs
NP_001394584.1:p.Pro1559Argfs
NP_001394585.1:p.Pro1558Argfs
NP_001394586.1:p.Pro1558Argfs
NP_001394587.1:p.Pro1558Argfs
NP_001394588.1:p.Pro1557Argfs
NP_001394589.1:p.Pro1557Argfs
NP_001394590.1:p.Pro1557Argfs
NP_001394591.1:p.Pro1557Argfs
NP_001394592.1:p.Pro1557Argfs
NP_001394593.1:p.Pro1544Argfs
NP_001394594.1:p.Pro1544Argfs
NP_001394595.1:p.Pro1544Argfs
NP_001394596.1:p.Pro1544Argfs
NP_001394597.1:p.Pro1544Argfs
NP_001394598.1:p.Pro1544Argfs
NP_001394599.1:p.Pro1543Argfs
NP_001394600.1:p.Pro1543Argfs
NP_001394601.1:p.Pro1543Argfs
NP_001394602.1:p.Pro1543Argfs
NP_001394603.1:p.Pro1543Argfs
NP_001394604.1:p.Pro1543Argfs
NP_001394605.1:p.Pro1543Argfs
NP_001394606.1:p.Pro1543Argfs
NP_001394607.1:p.Pro1543Argfs
NP_001394608.1:p.Pro1543Argfs
NP_001394609.1:p.Pro1543Argfs
NP_001394610.1:p.Pro1542Argfs
NP_001394611.1:p.Pro1542Argfs
NP_001394612.1:p.Pro1542Argfs
NP_001394613.1:p.Pro1585Argfs
NP_001394614.1:p.Pro1542Argfs
NP_001394615.1:p.Pro1542Argfs
NP_001394616.1:p.Pro1542Argfs
NP_001394617.1:p.Pro1542Argfs
NP_001394618.1:p.Pro1542Argfs
NP_001394619.1:p.Pro1541Argfs
NP_001394620.1:p.Pro1541Argfs
NP_001394621.1:p.Pro1538Argfs
NP_001394623.1:p.Pro1538Argfs
NP_001394624.1:p.Pro1538Argfs
NP_001394625.1:p.Pro1538Argfs
NP_001394626.1:p.Pro1538Argfs
NP_001394627.1:p.Pro1538Argfs
NP_001394653.1:p.Pro1538Argfs
NP_001394654.1:p.Pro1538Argfs
NP_001394655.1:p.Pro1538Argfs
NP_001394656.1:p.Pro1538Argfs
NP_001394657.1:p.Pro1538Argfs
NP_001394658.1:p.Pro1538Argfs
NP_001394659.1:p.Pro1538Argfs
NP_001394660.1:p.Pro1538Argfs
NP_001394661.1:p.Pro1537Argfs
NP_001394662.1:p.Pro1537Argfs
NP_001394663.1:p.Pro1537Argfs
NP_001394664.1:p.Pro1537Argfs
NP_001394665.1:p.Pro1537Argfs
NP_001394666.1:p.Pro1537Argfs
NP_001394667.1:p.Pro1537Argfs
NP_001394668.1:p.Pro1537Argfs
NP_001394669.1:p.Pro1537Argfs
NP_001394670.1:p.Pro1537Argfs
NP_001394671.1:p.Pro1537Argfs
NP_001394672.1:p.Pro1537Argfs
NP_001394673.1:p.Pro1537Argfs
NP_001394674.1:p.Pro1537Argfs
NP_001394675.1:p.Pro1537Argfs
NP_001394676.1:p.Pro1537Argfs
NP_001394677.1:p.Pro1537Argfs
NP_001394678.1:p.Pro1537Argfs
NP_001394679.1:p.Pro1537Argfs
NP_001394680.1:p.Pro1537Argfs
NP_001394681.1:p.Pro1537Argfs
NP_001394767.1:p.Pro1536Argfs
NP_001394768.1:p.Pro1536Argfs
NP_001394770.1:p.Pro1536Argfs
NP_001394771.1:p.Pro1536Argfs
NP_001394772.1:p.Pro1536Argfs
NP_001394773.1:p.Pro1536Argfs
NP_001394774.1:p.Pro1536Argfs
NP_001394775.1:p.Pro1536Argfs
NP_001394776.1:p.Pro1536Argfs
NP_001394777.1:p.Pro1536Argfs
NP_001394778.1:p.Pro1536Argfs
NP_001394779.1:p.Pro1536Argfs
NP_001394780.1:p.Pro1536Argfs
NP_001394781.1:p.Pro1536Argfs
NP_001394782.1:p.Pro1536Argfs
NP_001394783.1:p.Pro1585Argfs
NP_001394787.1:p.Pro1584Argfs
NP_001394788.1:p.Pro1584Argfs
NP_001394789.1:p.Pro1584Argfs
NP_001394790.1:p.Pro1583Argfs
NP_001394791.1:p.Pro1518Argfs
NP_001394792.1:p.Pro1543Argfs
NP_001394803.1:p.Pro1516Argfs
NP_001394804.1:p.Pro1516Argfs
NP_001394808.1:p.Pro1515Argfs
NP_001394810.1:p.Pro1515Argfs
NP_001394811.1:p.Pro1515Argfs
NP_001394813.1:p.Pro1515Argfs
NP_001394814.1:p.Pro1515Argfs
NP_001394815.1:p.Pro1515Argfs
NP_001394816.1:p.Pro1515Argfs
NP_001394818.1:p.Pro1515Argfs
NP_001394823.1:p.Pro1514Argfs
NP_001394824.1:p.Pro1514Argfs
NP_001394825.1:p.Pro1514Argfs
NP_001394826.1:p.Pro1514Argfs
NP_001394827.1:p.Pro1514Argfs
NP_001394828.1:p.Pro1514Argfs
NP_001394829.1:p.Pro1514Argfs
NP_001394831.1:p.Pro1514Argfs
NP_001394833.1:p.Pro1514Argfs
NP_001394835.1:p.Pro1514Argfs
NP_001394836.1:p.Pro1514Argfs
NP_001394837.1:p.Pro1514Argfs
NP_001394838.1:p.Pro1514Argfs
NP_001394839.1:p.Pro1514Argfs
NP_001394844.1:p.Pro1513Argfs
NP_001394845.1:p.Pro1513Argfs
NP_001394846.1:p.Pro1513Argfs
NP_001394847.1:p.Pro1513Argfs
NP_001394848.1:p.Pro1544Argfs
NP_001394849.1:p.Pro1497Argfs
NP_001394850.1:p.Pro1497Argfs
NP_001394851.1:p.Pro1497Argfs
NP_001394852.1:p.Pro1497Argfs
NP_001394853.1:p.Pro1497Argfs
NP_001394854.1:p.Pro1497Argfs
NP_001394855.1:p.Pro1497Argfs
NP_001394856.1:p.Pro1496Argfs
NP_001394857.1:p.Pro1496Argfs
NP_001394858.1:p.Pro1496Argfs
NP_001394859.1:p.Pro1496Argfs
NP_001394860.1:p.Pro1496Argfs
NP_001394861.1:p.Pro1496Argfs
NP_001394862.1:p.Pro1496Argfs
NP_001394863.1:p.Pro1495Argfs
NP_001394864.1:p.Pro1495Argfs
NP_001394865.1:p.Pro1495Argfs
NP_001394866.1:p.Pro1544Argfs
NP_001394867.1:p.Pro1544Argfs
NP_001394868.1:p.Pro1543Argfs
NP_001394869.1:p.Pro1543Argfs
NP_001394870.1:p.Pro1542Argfs
NP_001394871.1:p.Pro1538Argfs
NP_001394872.1:p.Pro1537Argfs
NP_001394873.1:p.Pro1537Argfs
NP_001394874.1:p.Pro1537Argfs
NP_001394875.1:p.Pro1474Argfs
NP_001394876.1:p.Pro1474Argfs
NP_001394877.1:p.Pro1474Argfs
NP_001394878.1:p.Pro1474Argfs
NP_001394879.1:p.Pro1473Argfs
NP_001394880.1:p.Pro1473Argfs
NP_001394881.1:p.Pro1473Argfs
NP_001394882.1:p.Pro1473Argfs
NP_001394883.1:p.Pro1473Argfs
NP_001394884.1:p.Pro1473Argfs
NP_001394885.1:p.Pro1472Argfs
NP_001394886.1:p.Pro1472Argfs
NP_001394887.1:p.Pro1472Argfs
NP_001394888.1:p.Pro1458Argfs
NP_001394889.1:p.Pro1457Argfs
NP_001394891.1:p.Pro1457Argfs
NP_001394892.1:p.Pro1456Argfs
NP_001394893.1:p.Pro1431Argfs
NP_001394894.1:p.Pro1416Argfs
NP_001394895.1:p.Pro1289Argfs
NP_001394896.1:p.Pro1288Argfs
NP_001394897.1:p.Pro717Argfs
NP_001394898.1:p.Pro716Argfs
NP_001394899.1:p.Pro504Argfs
NP_001394900.1:p.Pro504Argfs
NP_001394901.1:p.Pro503Argfs
NP_001394902.1:p.Pro482Argfs
NP_001394903.1:p.Pro482Argfs
NP_001394904.1:p.Pro482Argfs
NP_001394905.1:p.Pro482Argfs
NP_001394906.1:p.Pro482Argfs
NP_001394907.1:p.Pro482Argfs
NP_001394908.1:p.Pro481Argfs
NP_001394909.1:p.Pro481Argfs
NP_001394910.1:p.Pro481Argfs
NP_001394911.1:p.Pro481Argfs
NP_001394912.1:p.Pro481Argfs
NP_001394913.1:p.Pro481Argfs
NP_001394914.1:p.Pro481Argfs
NP_001394915.1:p.Pro481Argfs
NP_001394919.1:p.Pro481Argfs
NP_001394920.1:p.Pro481Argfs
NP_001394921.1:p.Pro481Argfs
NP_001394922.1:p.Pro481Argfs
NP_001395321.1:p.Pro480Argfs
NP_001395325.1:p.Pro480Argfs
NP_001395326.1:p.Pro480Argfs
NP_001395327.1:p.Pro480Argfs
NP_001395328.1:p.Pro480Argfs
NP_001395329.1:p.Pro480Argfs
NP_001395330.1:p.Pro480Argfs
NP_001395331.1:p.Pro480Argfs
NP_001395332.1:p.Pro480Argfs
NP_001395333.1:p.Pro480Argfs
NP_001395335.1:p.Pro479Argfs
NP_001395336.1:p.Pro479Argfs
NP_001395337.1:p.Pro479Argfs
NP_001395338.1:p.Pro478Argfs
NP_001395339.1:p.Pro457Argfs
NP_001395340.1:p.Pro456Argfs
NP_001395341.1:p.Pro455Argfs
NP_001395342.1:p.Pro455Argfs
NP_001395343.1:p.Pro455Argfs
NP_001395344.1:p.Pro455Argfs
NP_001395345.1:p.Pro455Argfs
NP_001395347.1:p.Pro443Argfs
NP_001395348.1:p.Pro443Argfs
NP_001395349.1:p.Pro443Argfs
NP_001395350.1:p.Pro442Argfs
NP_001395351.1:p.Pro442Argfs
NP_001395352.1:p.Pro442Argfs
NP_001395353.1:p.Pro442Argfs
NP_001395354.1:p.Pro441Argfs
NP_001395355.1:p.Pro441Argfs
NP_001395356.1:p.Pro441Argfs
NP_001395357.1:p.Pro441Argfs
NP_001395358.1:p.Pro441Argfs
NP_001395359.1:p.Pro441Argfs
NP_001395360.1:p.Pro441Argfs
NP_001395361.1:p.Pro440Argfs
NP_001395362.1:p.Pro440Argfs
NP_001395363.1:p.Pro440Argfs
NP_001395364.1:p.Pro440Argfs
NP_001395365.1:p.Pro440Argfs
NP_001395366.1:p.Pro440Argfs
NP_001395367.1:p.Pro440Argfs
NP_001395368.1:p.Pro440Argfs
NP_001395369.1:p.Pro440Argfs
NP_001395370.1:p.Pro440Argfs
NP_001395371.1:p.Pro440Argfs
NP_001395372.1:p.Pro440Argfs
NP_001395373.1:p.Pro440Argfs
NP_001395374.1:p.Pro439Argfs
NP_001395375.1:p.Pro439Argfs
NP_001395376.1:p.Pro439Argfs
NP_001395377.1:p.Pro439Argfs
NP_001395379.1:p.Pro439Argfs
NP_001395380.1:p.Pro437Argfs
NP_001395381.1:p.Pro435Argfs
NP_001395382.1:p.Pro435Argfs
NP_001395383.1:p.Pro435Argfs
NP_001395384.1:p.Pro435Argfs
NP_001395385.1:p.Pro435Argfs
NP_001395386.1:p.Pro435Argfs
NP_001395387.1:p.Pro434Argfs
NP_001395388.1:p.Pro434Argfs
NP_001395389.1:p.Pro434Argfs
NP_001395390.1:p.Pro434Argfs
NP_001395391.1:p.Pro434Argfs
NP_001395392.1:p.Pro434Argfs
NP_001395393.1:p.Pro434Argfs
NP_001395394.1:p.Pro434Argfs
NP_001395395.1:p.Pro434Argfs
NP_001395396.1:p.Pro434Argfs
NP_001395397.1:p.Pro433Argfs
NP_001395398.1:p.Pro433Argfs
NP_001395399.1:p.Pro433Argfs
NP_001395401.1:p.Pro481Argfs
NP_001395402.1:p.Pro480Argfs
NP_001395403.1:p.Pro415Argfs
NP_001395404.1:p.Pro414Argfs
NP_001395405.1:p.Pro414Argfs
NP_001395407.1:p.Pro412Argfs
NP_001395408.1:p.Pro412Argfs
NP_001395409.1:p.Pro412Argfs
NP_001395410.1:p.Pro411Argfs
NP_001395411.1:p.Pro411Argfs
NP_001395412.1:p.Pro411Argfs
NP_001395413.1:p.Pro411Argfs
NP_001395414.1:p.Pro411Argfs
NP_001395418.1:p.Pro411Argfs
NP_001395419.1:p.Pro411Argfs
NP_001395420.1:p.Pro411Argfs
NP_001395421.1:p.Pro410Argfs
NP_001395422.1:p.Pro410Argfs
NP_001395423.1:p.Pro402Argfs
NP_001395424.1:p.Pro400Argfs
NP_001395425.1:p.Pro394Argfs
NP_001395426.1:p.Pro394Argfs
NP_001395427.1:p.Pro394Argfs
NP_001395428.1:p.Pro394Argfs
NP_001395429.1:p.Pro394Argfs
NP_001395430.1:p.Pro394Argfs
NP_001395431.1:p.Pro393Argfs
NP_001395432.1:p.Pro393Argfs
NP_001395433.1:p.Pro393Argfs
NP_001395434.1:p.Pro392Argfs
NP_001395435.1:p.Pro373Argfs
NP_001395436.1:p.Pro372Argfs
NP_001395437.1:p.Pro369Argfs
NP_001395438.1:p.Pro368Argfs
NP_001395439.1:p.Pro355Argfs
NP_001395440.1:p.Pro354Argfs
NP_001395441.1:p.Pro314Argfs
NP_001395442.1:p.Pro305Argfs
NP_009225.1:p.Pro1585Argfs
NP_009225.1:p.Pro1585fs
NP_009228.2:p.Pro1538fs
NP_009229.2:p.Pro481Argfs
NP_009229.2:p.Pro481fs
NP_009230.2:p.Pro481fs
NP_009231.2:p.Pro1606fs
NP_009235.2:p.Pro481Argfs
LRG_292t1:c.4754_4755del
LRG_292:g.146824_146825del
LRG_292p1:p.Pro1585Argfs
NC_000017.10:g.41223176_41223177del
NC_000017.10:g.41223176_41223177delTG
NM_007294.3:c.4754_4755delCA
NM_007294.3:c.4754_4755delCA
NM_007294.4:c.4754_4755del
NM_007298.3:c.1442_1443del
NR_027676.2:n.4931_4932del
U14680.1:n.4873_4874delCA
p.Pro1585ArgfsX36

Protein change:

P1538fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 4873&base_change=del CA; dbSNP: rs80357837

NCBI 1000 Genomes Browser:

rs80357837

Molecular consequence:

NM_001407571.1:c.4541_4542delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.4820_4821delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.4820_4821delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.4817_4818delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.4817_4818delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.4817_4818delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.4814_4815delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.4814_4815delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.4754_4755delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.4754_4755delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.4754_4755delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.4754_4755delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.4754_4755delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.4754_4755delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.4754_4755delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.4754_4755delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.4751_4752delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.4751_4752delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.4751_4752delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.4751_4752delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.4751_4752delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.4751_4752delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.4751_4752delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.4751_4752delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.4751_4752delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.4751_4752delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.4751_4752delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.4751_4752delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.4751_4752delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.4751_4752delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.4751_4752delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.4751_4752delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.4751_4752delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.4748_4749delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.4748_4749delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.4748_4749delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.4748_4749delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.4748_4749delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.4748_4749delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.4748_4749delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.4748_4749delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.4748_4749delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.4748_4749delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.4748_4749delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.4748_4749delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.4748_4749delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.4748_4749delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.4748_4749delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.4748_4749delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.4745_4746delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.4745_4746delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.4742_4743delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.4739_4740delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.4697_4698delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.4694_4695delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.4754_4755delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.4676_4677delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.4676_4677delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.4676_4677delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.4673_4674delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.4673_4674delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.4673_4674delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.4670_4671delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.4670_4671delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.4670_4671delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.4670_4671delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.4670_4671delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.4631_4632delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.4631_4632delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.4631_4632delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.4631_4632delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.4631_4632delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.4631_4632delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.4628_4629delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.4628_4629delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.4628_4629delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.4628_4629delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.4628_4629delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.4628_4629delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.4628_4629delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.4628_4629delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.4628_4629delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.4628_4629delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.4628_4629delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.4625_4626delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.4625_4626delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.4625_4626delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.4754_4755delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.4625_4626delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.4625_4626delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.4625_4626delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.4625_4626delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.4625_4626delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.4622_4623delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.4622_4623delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.4613_4614delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.4613_4614delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.4613_4614delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.4613_4614delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.4613_4614delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.4613_4614delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.4613_4614delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.4613_4614delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.4613_4614delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.4613_4614delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.4613_4614delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.4613_4614delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.4613_4614delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.4613_4614delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.4610_4611delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.4610_4611delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.4610_4611delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.4610_4611delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.4610_4611delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.4610_4611delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.4610_4611delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.4610_4611delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.4610_4611delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.4610_4611delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.4610_4611delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.4610_4611delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.4610_4611delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.4610_4611delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.4610_4611delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.4610_4611delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.4610_4611delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.4610_4611delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.4610_4611delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.4610_4611delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.4610_4611delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.4607_4608delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.4607_4608delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.4607_4608delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.4607_4608delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.4607_4608delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.4607_4608delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.4607_4608delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.4607_4608delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.4607_4608delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.4607_4608delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.4607_4608delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.4607_4608delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.4607_4608delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.4607_4608delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.4607_4608delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.4754_4755delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.4751_4752delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.4751_4752delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.4751_4752delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.4748_4749delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.4553_4554delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.4628_4629delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.4547_4548delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.4547_4548delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.4544_4545delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.4544_4545delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.4544_4545delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.4544_4545delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.4544_4545delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.4544_4545delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.4544_4545delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.4544_4545delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.4541_4542delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.4541_4542delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.4541_4542delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.4541_4542delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.4541_4542delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.4541_4542delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.4541_4542delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.4541_4542delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.4541_4542delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.4541_4542delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.4541_4542delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.4541_4542delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.4541_4542delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.4541_4542delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.4538_4539delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.4538_4539delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.4538_4539delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.4538_4539delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.4631_4632delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.4490_4491delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.4490_4491delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.4490_4491delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.4490_4491delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.4490_4491delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.4490_4491delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.4490_4491delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.4487_4488delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.4487_4488delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.4487_4488delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.4487_4488delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.4487_4488delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.4487_4488delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.4487_4488delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.4484_4485delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.4484_4485delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.4484_4485delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.4631_4632delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.4631_4632delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.4628_4629delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.4628_4629delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.4625_4626delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.4613_4614delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.4610_4611delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.4610_4611delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.4610_4611delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.4421_4422delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.4421_4422delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.4421_4422delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.4421_4422delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.4418_4419delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.4418_4419delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.4418_4419delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.4418_4419delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.4418_4419delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.4418_4419delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.4415_4416delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.4415_4416delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.4415_4416delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.4373_4374delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.4370_4371delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.4370_4371delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.4367_4368delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.4292_4293delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.4247_4248delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.3866_3867delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.3863_3864delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.2150_2151delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407969.1:c.2147_2148delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407970.1:c.1511_1512delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407971.1:c.1511_1512delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407972.1:c.1508_1509delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407973.1:c.1445_1446delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407974.1:c.1445_1446delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407975.1:c.1445_1446delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407976.1:c.1445_1446delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407977.1:c.1445_1446delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407978.1:c.1445_1446delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407979.1:c.1442_1443delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407980.1:c.1442_1443delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407981.1:c.1442_1443delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407982.1:c.1442_1443delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407983.1:c.1442_1443delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407984.1:c.1442_1443delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407985.1:c.1442_1443delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407986.1:c.1442_1443delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407990.1:c.1442_1443delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407991.1:c.1442_1443delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407992.1:c.1442_1443delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407993.1:c.1442_1443delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408392.1:c.1439_1440delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408396.1:c.1439_1440delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408397.1:c.1439_1440delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408398.1:c.1439_1440delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408399.1:c.1439_1440delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408400.1:c.1439_1440delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408401.1:c.1439_1440delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408402.1:c.1439_1440delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408403.1:c.1439_1440delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408404.1:c.1439_1440delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408406.1:c.1436_1437delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408407.1:c.1436_1437delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408408.1:c.1436_1437delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408409.1:c.1433_1434delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408410.1:c.1370_1371delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408411.1:c.1367_1368delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408412.1:c.1364_1365delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408413.1:c.1364_1365delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408414.1:c.1364_1365delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408415.1:c.1364_1365delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408416.1:c.1364_1365delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408418.1:c.1328_1329delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408419.1:c.1328_1329delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408420.1:c.1328_1329delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408421.1:c.1325_1326delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408422.1:c.1325_1326delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408423.1:c.1325_1326delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408424.1:c.1325_1326delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408425.1:c.1322_1323delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408426.1:c.1322_1323delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408427.1:c.1322_1323delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408428.1:c.1322_1323delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408429.1:c.1322_1323delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408430.1:c.1322_1323delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408431.1:c.1322_1323delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408432.1:c.1319_1320delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408433.1:c.1319_1320delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408434.1:c.1319_1320delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408435.1:c.1319_1320delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408436.1:c.1319_1320delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408437.1:c.1319_1320delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408438.1:c.1319_1320delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408439.1:c.1319_1320delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408440.1:c.1319_1320delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408441.1:c.1319_1320delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408442.1:c.1319_1320delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408443.1:c.1319_1320delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408444.1:c.1319_1320delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408445.1:c.1316_1317delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408446.1:c.1316_1317delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408447.1:c.1316_1317delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408448.1:c.1316_1317delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408450.1:c.1316_1317delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408451.1:c.1310_1311delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408452.1:c.1304_1305delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408453.1:c.1304_1305delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408454.1:c.1304_1305delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408455.1:c.1304_1305delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408456.1:c.1304_1305delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408457.1:c.1304_1305delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408458.1:c.1301_1302delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408459.1:c.1301_1302delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408460.1:c.1301_1302delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408461.1:c.1301_1302delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408462.1:c.1301_1302delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408463.1:c.1301_1302delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408464.1:c.1301_1302delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408465.1:c.1301_1302delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408466.1:c.1301_1302delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408467.1:c.1301_1302delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408468.1:c.1298_1299delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408469.1:c.1298_1299delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408470.1:c.1298_1299delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408472.1:c.1442_1443delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408473.1:c.1439_1440delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408474.1:c.1244_1245delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408475.1:c.1241_1242delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408476.1:c.1241_1242delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408478.1:c.1235_1236delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408479.1:c.1235_1236delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408480.1:c.1235_1236delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408481.1:c.1232_1233delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408482.1:c.1232_1233delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408483.1:c.1232_1233delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408484.1:c.1232_1233delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408485.1:c.1232_1233delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408489.1:c.1232_1233delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408490.1:c.1232_1233delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408491.1:c.1232_1233delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408492.1:c.1229_1230delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408493.1:c.1229_1230delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408494.1:c.1205_1206delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408495.1:c.1199_1200delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408496.1:c.1181_1182delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408497.1:c.1181_1182delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408498.1:c.1181_1182delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408499.1:c.1181_1182delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408500.1:c.1181_1182delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408501.1:c.1181_1182delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408502.1:c.1178_1179delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408503.1:c.1178_1179delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408504.1:c.1178_1179delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408505.1:c.1175_1176delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408506.1:c.1118_1119delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408507.1:c.1115_1116delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408508.1:c.1106_1107delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408509.1:c.1103_1104delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408510.1:c.1064_1065delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408511.1:c.1061_1062delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408512.1:c.941_942delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408513.1:c.914_915delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.4754_4755del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.4613_4614del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007298.4:c.1442_1443delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007299.4:c.1442_1443del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.4817_4818del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007304.2:c.1442_1443delCA - frameshift variant - [Sequence Ontology: SO:0001589]
NR_027676.2:n.4931_4932del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000731762	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Pathogenic (Jul 20, 2017)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 27697421, 8875986, 24033266
SCV001582496	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jun 5, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 8875986, 27697421, 20104584, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000731762

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Pathogenic
(Jul 20, 2017)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV001582496

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jun 5, 2023)

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
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

BRCA1 germline mutational spectrum in Italian families from Tuscany: a high frequency of novel mutations.

Caligo MA, Ghimenti C, Cipollini G, Ricci S, Brunetti I, Marchetti V, Olsen R, Neuhausen S, Shattuck-Eidens D, Conte PF, Skolnick MH, Bevilacqua G.

Oncogene. 1996 Oct 3;13(7):1483-8.

PubMed [citation]

PMID:: 8875986

See all PubMed Citations (5)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000731762.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)

Description

The p.Pro1585fs variant in BRCA1 has been reported in at least 5 individuals wit h breast cancer (Ghili 2017, Caligo 1996, Breast Cancer Information Core (BIC) d atabase) and was absent from large population studies, though the ability of the se studies to accurately detect indels may be limited. This variant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at position 1585 and leads to a premature termination codon 36 amino acids down stream. This alteration is then predicted to lead to a truncated or absent prote in. Heterozygous loss of function of the BRCA1 gene is an established disease me chanism in hereditary breast and ovarian cancer (HBOC). In addition, this varian t was classified as pathogenic on Sept 8, 2016 by the ClinGen-approved ENIGMA ex pert panel (ClinVar SCV000300159.2). In summary, this variant meets criteria to be classified as pathogenic for HBOC in an autosomal dominant manner based upon the predicted impact to the protein and presence in multiple affected individual s.

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

From Invitae, SCV001582496.4

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

Description

ClinVar contains an entry for this variant (Variation ID: 55280). This variant is also known as 4873delCA. This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 8875986, 27697421). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro1585Argfs*36) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been 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: Sep 16, 2024

ClinVar

Relating variation to medicine