ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4754_4755del (p.Pro1585fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.4754_4755del (p.Pro1585fs)
Variation ID: 55280 Accession: VCV000055280.28
- Type and length
-
Deletion, 2 bp
- Location
-
Cytogenetic: 17q21.31 17: 43071159-43071160 (GRCh38) [ NCBI UCSC ] 17: 41223176-41223177 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 1, 2014 May 1, 2024 Sep 8, 2016 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.4754_4755del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Pro1585fs frameshift NM_001407571.1:c.4541_4542delCA NP_001394500.1:p.Pro1514Argfs frameshift NM_001407581.1:c.4820_4821delCA NP_001394510.1:p.Pro1607Argfs frameshift NM_001407582.1:c.4820_4821delCA NP_001394511.1:p.Pro1607Argfs frameshift NM_001407583.1:c.4817_4818delCA NP_001394512.1:p.Pro1606Argfs frameshift NM_001407585.1:c.4817_4818delCA NP_001394514.1:p.Pro1606Argfs frameshift NM_001407587.1:c.4817_4818delCA NP_001394516.1:p.Pro1606Argfs frameshift NM_001407590.1:c.4814_4815delCA NP_001394519.1:p.Pro1605Argfs frameshift NM_001407591.1:c.4814_4815delCA NP_001394520.1:p.Pro1605Argfs frameshift NM_001407593.1:c.4754_4755delCA NP_001394522.1:p.Pro1585Argfs frameshift NM_001407594.1:c.4754_4755delCA NP_001394523.1:p.Pro1585Argfs frameshift NM_001407596.1:c.4754_4755delCA NP_001394525.1:p.Pro1585Argfs frameshift NM_001407597.1:c.4754_4755delCA NP_001394526.1:p.Pro1585Argfs frameshift NM_001407598.1:c.4754_4755delCA NP_001394527.1:p.Pro1585Argfs frameshift NM_001407602.1:c.4754_4755delCA NP_001394531.1:p.Pro1585Argfs frameshift NM_001407603.1:c.4754_4755delCA NP_001394532.1:p.Pro1585Argfs frameshift NM_001407605.1:c.4754_4755delCA NP_001394534.1:p.Pro1585Argfs frameshift NM_001407610.1:c.4751_4752delCA NP_001394539.1:p.Pro1584Argfs frameshift NM_001407611.1:c.4751_4752delCA NP_001394540.1:p.Pro1584Argfs frameshift NM_001407612.1:c.4751_4752delCA NP_001394541.1:p.Pro1584Argfs frameshift NM_001407613.1:c.4751_4752delCA NP_001394542.1:p.Pro1584Argfs frameshift NM_001407614.1:c.4751_4752delCA NP_001394543.1:p.Pro1584Argfs frameshift NM_001407615.1:c.4751_4752delCA NP_001394544.1:p.Pro1584Argfs frameshift NM_001407616.1:c.4751_4752delCA NP_001394545.1:p.Pro1584Argfs frameshift NM_001407617.1:c.4751_4752delCA NP_001394546.1:p.Pro1584Argfs frameshift NM_001407618.1:c.4751_4752delCA NP_001394547.1:p.Pro1584Argfs frameshift NM_001407619.1:c.4751_4752delCA NP_001394548.1:p.Pro1584Argfs frameshift NM_001407620.1:c.4751_4752delCA NP_001394549.1:p.Pro1584Argfs frameshift NM_001407621.1:c.4751_4752delCA NP_001394550.1:p.Pro1584Argfs frameshift NM_001407622.1:c.4751_4752delCA NP_001394551.1:p.Pro1584Argfs frameshift NM_001407623.1:c.4751_4752delCA NP_001394552.1:p.Pro1584Argfs frameshift NM_001407624.1:c.4751_4752delCA NP_001394553.1:p.Pro1584Argfs frameshift NM_001407625.1:c.4751_4752delCA NP_001394554.1:p.Pro1584Argfs frameshift NM_001407626.1:c.4751_4752delCA NP_001394555.1:p.Pro1584Argfs frameshift NM_001407627.1:c.4748_4749delCA NP_001394556.1:p.Pro1583Argfs frameshift NM_001407628.1:c.4748_4749delCA NP_001394557.1:p.Pro1583Argfs frameshift NM_001407629.1:c.4748_4749delCA NP_001394558.1:p.Pro1583Argfs frameshift NM_001407630.1:c.4748_4749delCA NP_001394559.1:p.Pro1583Argfs frameshift NM_001407631.1:c.4748_4749delCA NP_001394560.1:p.Pro1583Argfs frameshift NM_001407632.1:c.4748_4749delCA NP_001394561.1:p.Pro1583Argfs frameshift NM_001407633.1:c.4748_4749delCA NP_001394562.1:p.Pro1583Argfs frameshift NM_001407634.1:c.4748_4749delCA NP_001394563.1:p.Pro1583Argfs frameshift NM_001407635.1:c.4748_4749delCA NP_001394564.1:p.Pro1583Argfs frameshift NM_001407636.1:c.4748_4749delCA NP_001394565.1:p.Pro1583Argfs frameshift NM_001407637.1:c.4748_4749delCA NP_001394566.1:p.Pro1583Argfs frameshift NM_001407638.1:c.4748_4749delCA NP_001394567.1:p.Pro1583Argfs frameshift NM_001407639.1:c.4748_4749delCA NP_001394568.1:p.Pro1583Argfs frameshift NM_001407640.1:c.4748_4749delCA NP_001394569.1:p.Pro1583Argfs frameshift NM_001407641.1:c.4748_4749delCA NP_001394570.1:p.Pro1583Argfs frameshift NM_001407642.1:c.4748_4749delCA NP_001394571.1:p.Pro1583Argfs frameshift NM_001407644.1:c.4745_4746delCA NP_001394573.1:p.Pro1582Argfs frameshift NM_001407645.1:c.4745_4746delCA NP_001394574.1:p.Pro1582Argfs frameshift NM_001407646.1:c.4742_4743delCA NP_001394575.1:p.Pro1581Argfs frameshift NM_001407647.1:c.4739_4740delCA NP_001394576.1:p.Pro1580Argfs frameshift NM_001407648.1:c.4697_4698delCA NP_001394577.1:p.Pro1566Argfs frameshift NM_001407649.1:c.4694_4695delCA NP_001394578.1:p.Pro1565Argfs frameshift NM_001407652.1:c.4754_4755delCA NP_001394581.1:p.Pro1585Argfs frameshift NM_001407653.1:c.4676_4677delCA NP_001394582.1:p.Pro1559Argfs frameshift NM_001407654.1:c.4676_4677delCA NP_001394583.1:p.Pro1559Argfs frameshift NM_001407655.1:c.4676_4677delCA NP_001394584.1:p.Pro1559Argfs frameshift NM_001407656.1:c.4673_4674delCA NP_001394585.1:p.Pro1558Argfs frameshift NM_001407657.1:c.4673_4674delCA NP_001394586.1:p.Pro1558Argfs frameshift NM_001407658.1:c.4673_4674delCA NP_001394587.1:p.Pro1558Argfs frameshift NM_001407659.1:c.4670_4671delCA NP_001394588.1:p.Pro1557Argfs frameshift NM_001407660.1:c.4670_4671delCA NP_001394589.1:p.Pro1557Argfs frameshift NM_001407661.1:c.4670_4671delCA NP_001394590.1:p.Pro1557Argfs frameshift NM_001407662.1:c.4670_4671delCA NP_001394591.1:p.Pro1557Argfs frameshift NM_001407663.1:c.4670_4671delCA NP_001394592.1:p.Pro1557Argfs frameshift NM_001407664.1:c.4631_4632delCA NP_001394593.1:p.Pro1544Argfs frameshift NM_001407665.1:c.4631_4632delCA NP_001394594.1:p.Pro1544Argfs frameshift NM_001407666.1:c.4631_4632delCA NP_001394595.1:p.Pro1544Argfs frameshift NM_001407667.1:c.4631_4632delCA NP_001394596.1:p.Pro1544Argfs frameshift NM_001407668.1:c.4631_4632delCA NP_001394597.1:p.Pro1544Argfs frameshift NM_001407669.1:c.4631_4632delCA NP_001394598.1:p.Pro1544Argfs frameshift NM_001407670.1:c.4628_4629delCA NP_001394599.1:p.Pro1543Argfs frameshift NM_001407671.1:c.4628_4629delCA NP_001394600.1:p.Pro1543Argfs frameshift NM_001407672.1:c.4628_4629delCA NP_001394601.1:p.Pro1543Argfs frameshift NM_001407673.1:c.4628_4629delCA NP_001394602.1:p.Pro1543Argfs frameshift NM_001407674.1:c.4628_4629delCA NP_001394603.1:p.Pro1543Argfs frameshift NM_001407675.1:c.4628_4629delCA NP_001394604.1:p.Pro1543Argfs frameshift NM_001407676.1:c.4628_4629delCA NP_001394605.1:p.Pro1543Argfs frameshift NM_001407677.1:c.4628_4629delCA NP_001394606.1:p.Pro1543Argfs frameshift NM_001407678.1:c.4628_4629delCA NP_001394607.1:p.Pro1543Argfs frameshift NM_001407679.1:c.4628_4629delCA NP_001394608.1:p.Pro1543Argfs frameshift NM_001407680.1:c.4628_4629delCA NP_001394609.1:p.Pro1543Argfs frameshift NM_001407681.1:c.4625_4626delCA NP_001394610.1:p.Pro1542Argfs frameshift NM_001407682.1:c.4625_4626delCA NP_001394611.1:p.Pro1542Argfs frameshift NM_001407683.1:c.4625_4626delCA NP_001394612.1:p.Pro1542Argfs frameshift NM_001407684.1:c.4754_4755delCA NP_001394613.1:p.Pro1585Argfs frameshift NM_001407685.1:c.4625_4626delCA NP_001394614.1:p.Pro1542Argfs frameshift NM_001407686.1:c.4625_4626delCA NP_001394615.1:p.Pro1542Argfs frameshift NM_001407687.1:c.4625_4626delCA NP_001394616.1:p.Pro1542Argfs frameshift NM_001407688.1:c.4625_4626delCA NP_001394617.1:p.Pro1542Argfs frameshift NM_001407689.1:c.4625_4626delCA NP_001394618.1:p.Pro1542Argfs frameshift NM_001407690.1:c.4622_4623delCA NP_001394619.1:p.Pro1541Argfs frameshift NM_001407691.1:c.4622_4623delCA NP_001394620.1:p.Pro1541Argfs frameshift NM_001407692.1:c.4613_4614delCA NP_001394621.1:p.Pro1538Argfs frameshift NM_001407694.1:c.4613_4614delCA NP_001394623.1:p.Pro1538Argfs frameshift NM_001407695.1:c.4613_4614delCA NP_001394624.1:p.Pro1538Argfs frameshift NM_001407696.1:c.4613_4614delCA NP_001394625.1:p.Pro1538Argfs frameshift NM_001407697.1:c.4613_4614delCA NP_001394626.1:p.Pro1538Argfs frameshift NM_001407698.1:c.4613_4614delCA NP_001394627.1:p.Pro1538Argfs frameshift NM_001407724.1:c.4613_4614delCA NP_001394653.1:p.Pro1538Argfs frameshift NM_001407725.1:c.4613_4614delCA NP_001394654.1:p.Pro1538Argfs frameshift NM_001407726.1:c.4613_4614delCA NP_001394655.1:p.Pro1538Argfs frameshift NM_001407727.1:c.4613_4614delCA NP_001394656.1:p.Pro1538Argfs frameshift NM_001407728.1:c.4613_4614delCA NP_001394657.1:p.Pro1538Argfs frameshift NM_001407729.1:c.4613_4614delCA NP_001394658.1:p.Pro1538Argfs frameshift NM_001407730.1:c.4613_4614delCA NP_001394659.1:p.Pro1538Argfs frameshift NM_001407731.1:c.4613_4614delCA NP_001394660.1:p.Pro1538Argfs frameshift NM_001407732.1:c.4610_4611delCA NP_001394661.1:p.Pro1537Argfs frameshift NM_001407733.1:c.4610_4611delCA NP_001394662.1:p.Pro1537Argfs frameshift NM_001407734.1:c.4610_4611delCA NP_001394663.1:p.Pro1537Argfs frameshift NM_001407735.1:c.4610_4611delCA NP_001394664.1:p.Pro1537Argfs frameshift NM_001407736.1:c.4610_4611delCA NP_001394665.1:p.Pro1537Argfs frameshift NM_001407737.1:c.4610_4611delCA NP_001394666.1:p.Pro1537Argfs frameshift NM_001407738.1:c.4610_4611delCA NP_001394667.1:p.Pro1537Argfs frameshift NM_001407739.1:c.4610_4611delCA NP_001394668.1:p.Pro1537Argfs frameshift NM_001407740.1:c.4610_4611delCA NP_001394669.1:p.Pro1537Argfs frameshift NM_001407741.1:c.4610_4611delCA NP_001394670.1:p.Pro1537Argfs frameshift NM_001407742.1:c.4610_4611delCA NP_001394671.1:p.Pro1537Argfs frameshift NM_001407743.1:c.4610_4611delCA NP_001394672.1:p.Pro1537Argfs frameshift NM_001407744.1:c.4610_4611delCA NP_001394673.1:p.Pro1537Argfs frameshift NM_001407745.1:c.4610_4611delCA NP_001394674.1:p.Pro1537Argfs frameshift NM_001407746.1:c.4610_4611delCA NP_001394675.1:p.Pro1537Argfs frameshift NM_001407747.1:c.4610_4611delCA NP_001394676.1:p.Pro1537Argfs frameshift NM_001407748.1:c.4610_4611delCA NP_001394677.1:p.Pro1537Argfs frameshift NM_001407749.1:c.4610_4611delCA NP_001394678.1:p.Pro1537Argfs frameshift NM_001407750.1:c.4610_4611delCA NP_001394679.1:p.Pro1537Argfs frameshift NM_001407751.1:c.4610_4611delCA NP_001394680.1:p.Pro1537Argfs frameshift NM_001407752.1:c.4610_4611delCA NP_001394681.1:p.Pro1537Argfs frameshift NM_001407838.1:c.4607_4608delCA NP_001394767.1:p.Pro1536Argfs frameshift NM_001407839.1:c.4607_4608delCA NP_001394768.1:p.Pro1536Argfs frameshift NM_001407841.1:c.4607_4608delCA NP_001394770.1:p.Pro1536Argfs frameshift NM_001407842.1:c.4607_4608delCA NP_001394771.1:p.Pro1536Argfs frameshift NM_001407843.1:c.4607_4608delCA NP_001394772.1:p.Pro1536Argfs frameshift NM_001407844.1:c.4607_4608delCA NP_001394773.1:p.Pro1536Argfs frameshift NM_001407845.1:c.4607_4608delCA NP_001394774.1:p.Pro1536Argfs frameshift NM_001407846.1:c.4607_4608delCA NP_001394775.1:p.Pro1536Argfs frameshift NM_001407847.1:c.4607_4608delCA NP_001394776.1:p.Pro1536Argfs frameshift NM_001407848.1:c.4607_4608delCA NP_001394777.1:p.Pro1536Argfs frameshift NM_001407849.1:c.4607_4608delCA NP_001394778.1:p.Pro1536Argfs frameshift NM_001407850.1:c.4607_4608delCA NP_001394779.1:p.Pro1536Argfs frameshift NM_001407851.1:c.4607_4608delCA NP_001394780.1:p.Pro1536Argfs frameshift NM_001407852.1:c.4607_4608delCA NP_001394781.1:p.Pro1536Argfs frameshift NM_001407853.1:c.4607_4608delCA NP_001394782.1:p.Pro1536Argfs frameshift NM_001407854.1:c.4754_4755delCA NP_001394783.1:p.Pro1585Argfs frameshift NM_001407858.1:c.4751_4752delCA NP_001394787.1:p.Pro1584Argfs frameshift NM_001407859.1:c.4751_4752delCA NP_001394788.1:p.Pro1584Argfs frameshift NM_001407860.1:c.4751_4752delCA NP_001394789.1:p.Pro1584Argfs frameshift NM_001407861.1:c.4748_4749delCA NP_001394790.1:p.Pro1583Argfs frameshift NM_001407862.1:c.4553_4554delCA NP_001394791.1:p.Pro1518Argfs frameshift NM_001407863.1:c.4628_4629delCA NP_001394792.1:p.Pro1543Argfs frameshift NM_001407874.1:c.4547_4548delCA NP_001394803.1:p.Pro1516Argfs frameshift NM_001407875.1:c.4547_4548delCA NP_001394804.1:p.Pro1516Argfs frameshift NM_001407879.1:c.4544_4545delCA NP_001394808.1:p.Pro1515Argfs frameshift NM_001407881.1:c.4544_4545delCA NP_001394810.1:p.Pro1515Argfs frameshift NM_001407882.1:c.4544_4545delCA NP_001394811.1:p.Pro1515Argfs frameshift NM_001407884.1:c.4544_4545delCA NP_001394813.1:p.Pro1515Argfs frameshift NM_001407885.1:c.4544_4545delCA NP_001394814.1:p.Pro1515Argfs frameshift NM_001407886.1:c.4544_4545delCA NP_001394815.1:p.Pro1515Argfs frameshift NM_001407887.1:c.4544_4545delCA NP_001394816.1:p.Pro1515Argfs frameshift NM_001407889.1:c.4544_4545delCA NP_001394818.1:p.Pro1515Argfs frameshift NM_001407894.1:c.4541_4542delCA NP_001394823.1:p.Pro1514Argfs frameshift NM_001407895.1:c.4541_4542delCA NP_001394824.1:p.Pro1514Argfs frameshift NM_001407896.1:c.4541_4542delCA NP_001394825.1:p.Pro1514Argfs frameshift NM_001407897.1:c.4541_4542delCA NP_001394826.1:p.Pro1514Argfs frameshift NM_001407898.1:c.4541_4542delCA NP_001394827.1:p.Pro1514Argfs frameshift NM_001407899.1:c.4541_4542delCA NP_001394828.1:p.Pro1514Argfs frameshift NM_001407900.1:c.4541_4542delCA NP_001394829.1:p.Pro1514Argfs frameshift NM_001407902.1:c.4541_4542delCA NP_001394831.1:p.Pro1514Argfs frameshift NM_001407904.1:c.4541_4542delCA NP_001394833.1:p.Pro1514Argfs frameshift NM_001407906.1:c.4541_4542delCA NP_001394835.1:p.Pro1514Argfs frameshift NM_001407907.1:c.4541_4542delCA NP_001394836.1:p.Pro1514Argfs frameshift NM_001407908.1:c.4541_4542delCA NP_001394837.1:p.Pro1514Argfs frameshift NM_001407909.1:c.4541_4542delCA NP_001394838.1:p.Pro1514Argfs frameshift NM_001407910.1:c.4541_4542delCA NP_001394839.1:p.Pro1514Argfs frameshift NM_001407915.1:c.4538_4539delCA NP_001394844.1:p.Pro1513Argfs frameshift NM_001407916.1:c.4538_4539delCA NP_001394845.1:p.Pro1513Argfs frameshift NM_001407917.1:c.4538_4539delCA NP_001394846.1:p.Pro1513Argfs frameshift NM_001407918.1:c.4538_4539delCA NP_001394847.1:p.Pro1513Argfs frameshift NM_001407919.1:c.4631_4632delCA NP_001394848.1:p.Pro1544Argfs frameshift NM_001407920.1:c.4490_4491delCA NP_001394849.1:p.Pro1497Argfs frameshift NM_001407921.1:c.4490_4491delCA NP_001394850.1:p.Pro1497Argfs frameshift NM_001407922.1:c.4490_4491delCA NP_001394851.1:p.Pro1497Argfs frameshift NM_001407923.1:c.4490_4491delCA NP_001394852.1:p.Pro1497Argfs frameshift NM_001407924.1:c.4490_4491delCA NP_001394853.1:p.Pro1497Argfs frameshift NM_001407925.1:c.4490_4491delCA NP_001394854.1:p.Pro1497Argfs frameshift NM_001407926.1:c.4490_4491delCA NP_001394855.1:p.Pro1497Argfs frameshift NM_001407927.1:c.4487_4488delCA NP_001394856.1:p.Pro1496Argfs frameshift NM_001407928.1:c.4487_4488delCA NP_001394857.1:p.Pro1496Argfs frameshift NM_001407929.1:c.4487_4488delCA NP_001394858.1:p.Pro1496Argfs frameshift NM_001407930.1:c.4487_4488delCA NP_001394859.1:p.Pro1496Argfs frameshift NM_001407931.1:c.4487_4488delCA NP_001394860.1:p.Pro1496Argfs frameshift NM_001407932.1:c.4487_4488delCA NP_001394861.1:p.Pro1496Argfs frameshift NM_001407933.1:c.4487_4488delCA NP_001394862.1:p.Pro1496Argfs frameshift NM_001407934.1:c.4484_4485delCA NP_001394863.1:p.Pro1495Argfs frameshift NM_001407935.1:c.4484_4485delCA NP_001394864.1:p.Pro1495Argfs frameshift NM_001407936.1:c.4484_4485delCA NP_001394865.1:p.Pro1495Argfs frameshift NM_001407937.1:c.4631_4632delCA NP_001394866.1:p.Pro1544Argfs frameshift NM_001407938.1:c.4631_4632delCA NP_001394867.1:p.Pro1544Argfs frameshift NM_001407939.1:c.4628_4629delCA NP_001394868.1:p.Pro1543Argfs frameshift NM_001407940.1:c.4628_4629delCA NP_001394869.1:p.Pro1543Argfs frameshift NM_001407941.1:c.4625_4626delCA NP_001394870.1:p.Pro1542Argfs frameshift NM_001407942.1:c.4613_4614delCA NP_001394871.1:p.Pro1538Argfs frameshift NM_001407943.1:c.4610_4611delCA NP_001394872.1:p.Pro1537Argfs frameshift NM_001407944.1:c.4610_4611delCA NP_001394873.1:p.Pro1537Argfs frameshift NM_001407945.1:c.4610_4611delCA NP_001394874.1:p.Pro1537Argfs frameshift NM_001407946.1:c.4421_4422delCA NP_001394875.1:p.Pro1474Argfs frameshift NM_001407947.1:c.4421_4422delCA NP_001394876.1:p.Pro1474Argfs frameshift NM_001407948.1:c.4421_4422delCA NP_001394877.1:p.Pro1474Argfs frameshift NM_001407949.1:c.4421_4422delCA NP_001394878.1:p.Pro1474Argfs frameshift NM_001407950.1:c.4418_4419delCA NP_001394879.1:p.Pro1473Argfs frameshift NM_001407951.1:c.4418_4419delCA NP_001394880.1:p.Pro1473Argfs frameshift NM_001407952.1:c.4418_4419delCA NP_001394881.1:p.Pro1473Argfs frameshift NM_001407953.1:c.4418_4419delCA NP_001394882.1:p.Pro1473Argfs frameshift NM_001407954.1:c.4418_4419delCA NP_001394883.1:p.Pro1473Argfs frameshift NM_001407955.1:c.4418_4419delCA NP_001394884.1:p.Pro1473Argfs frameshift NM_001407956.1:c.4415_4416delCA NP_001394885.1:p.Pro1472Argfs frameshift NM_001407957.1:c.4415_4416delCA NP_001394886.1:p.Pro1472Argfs frameshift NM_001407958.1:c.4415_4416delCA NP_001394887.1:p.Pro1472Argfs frameshift NM_001407959.1:c.4373_4374delCA NP_001394888.1:p.Pro1458Argfs frameshift NM_001407960.1:c.4370_4371delCA NP_001394889.1:p.Pro1457Argfs frameshift NM_001407962.1:c.4370_4371delCA NP_001394891.1:p.Pro1457Argfs frameshift NM_001407963.1:c.4367_4368delCA NP_001394892.1:p.Pro1456Argfs frameshift NM_001407964.1:c.4292_4293delCA NP_001394893.1:p.Pro1431Argfs frameshift NM_001407965.1:c.4247_4248delCA NP_001394894.1:p.Pro1416Argfs frameshift NM_001407966.1:c.3866_3867delCA NP_001394895.1:p.Pro1289Argfs frameshift NM_001407967.1:c.3863_3864delCA NP_001394896.1:p.Pro1288Argfs frameshift NM_001407968.1:c.2150_2151delCA NP_001394897.1:p.Pro717Argfs frameshift NM_001407969.1:c.2147_2148delCA NP_001394898.1:p.Pro716Argfs frameshift NM_001407970.1:c.1511_1512delCA NP_001394899.1:p.Pro504Argfs frameshift NM_001407971.1:c.1511_1512delCA NP_001394900.1:p.Pro504Argfs frameshift NM_001407972.1:c.1508_1509delCA NP_001394901.1:p.Pro503Argfs frameshift NM_001407973.1:c.1445_1446delCA NP_001394902.1:p.Pro482Argfs frameshift NM_001407974.1:c.1445_1446delCA NP_001394903.1:p.Pro482Argfs frameshift NM_001407975.1:c.1445_1446delCA NP_001394904.1:p.Pro482Argfs frameshift NM_001407976.1:c.1445_1446delCA NP_001394905.1:p.Pro482Argfs frameshift NM_001407977.1:c.1445_1446delCA NP_001394906.1:p.Pro482Argfs frameshift NM_001407978.1:c.1445_1446delCA NP_001394907.1:p.Pro482Argfs frameshift NM_001407979.1:c.1442_1443delCA NP_001394908.1:p.Pro481Argfs frameshift NM_001407980.1:c.1442_1443delCA NP_001394909.1:p.Pro481Argfs frameshift NM_001407981.1:c.1442_1443delCA NP_001394910.1:p.Pro481Argfs frameshift NM_001407982.1:c.1442_1443delCA NP_001394911.1:p.Pro481Argfs frameshift NM_001407983.1:c.1442_1443delCA NP_001394912.1:p.Pro481Argfs frameshift NM_001407984.1:c.1442_1443delCA NP_001394913.1:p.Pro481Argfs frameshift NM_001407985.1:c.1442_1443delCA NP_001394914.1:p.Pro481Argfs frameshift NM_001407986.1:c.1442_1443delCA NP_001394915.1:p.Pro481Argfs frameshift NM_001407990.1:c.1442_1443delCA NP_001394919.1:p.Pro481Argfs frameshift NM_001407991.1:c.1442_1443delCA NP_001394920.1:p.Pro481Argfs frameshift NM_001407992.1:c.1442_1443delCA NP_001394921.1:p.Pro481Argfs frameshift NM_001407993.1:c.1442_1443delCA NP_001394922.1:p.Pro481Argfs frameshift NM_001408392.1:c.1439_1440delCA NP_001395321.1:p.Pro480Argfs frameshift NM_001408396.1:c.1439_1440delCA NP_001395325.1:p.Pro480Argfs frameshift NM_001408397.1:c.1439_1440delCA NP_001395326.1:p.Pro480Argfs frameshift NM_001408398.1:c.1439_1440delCA NP_001395327.1:p.Pro480Argfs frameshift NM_001408399.1:c.1439_1440delCA NP_001395328.1:p.Pro480Argfs frameshift NM_001408400.1:c.1439_1440delCA NP_001395329.1:p.Pro480Argfs frameshift NM_001408401.1:c.1439_1440delCA NP_001395330.1:p.Pro480Argfs frameshift NM_001408402.1:c.1439_1440delCA NP_001395331.1:p.Pro480Argfs frameshift NM_001408403.1:c.1439_1440delCA NP_001395332.1:p.Pro480Argfs frameshift NM_001408404.1:c.1439_1440delCA NP_001395333.1:p.Pro480Argfs frameshift NM_001408406.1:c.1436_1437delCA NP_001395335.1:p.Pro479Argfs frameshift NM_001408407.1:c.1436_1437delCA NP_001395336.1:p.Pro479Argfs frameshift NM_001408408.1:c.1436_1437delCA NP_001395337.1:p.Pro479Argfs frameshift NM_001408409.1:c.1433_1434delCA NP_001395338.1:p.Pro478Argfs frameshift NM_001408410.1:c.1370_1371delCA NP_001395339.1:p.Pro457Argfs frameshift NM_001408411.1:c.1367_1368delCA NP_001395340.1:p.Pro456Argfs frameshift NM_001408412.1:c.1364_1365delCA NP_001395341.1:p.Pro455Argfs frameshift NM_001408413.1:c.1364_1365delCA NP_001395342.1:p.Pro455Argfs frameshift NM_001408414.1:c.1364_1365delCA NP_001395343.1:p.Pro455Argfs frameshift NM_001408415.1:c.1364_1365delCA NP_001395344.1:p.Pro455Argfs frameshift NM_001408416.1:c.1364_1365delCA NP_001395345.1:p.Pro455Argfs frameshift NM_001408418.1:c.1328_1329delCA NP_001395347.1:p.Pro443Argfs frameshift NM_001408419.1:c.1328_1329delCA NP_001395348.1:p.Pro443Argfs frameshift NM_001408420.1:c.1328_1329delCA NP_001395349.1:p.Pro443Argfs frameshift NM_001408421.1:c.1325_1326delCA NP_001395350.1:p.Pro442Argfs frameshift NM_001408422.1:c.1325_1326delCA NP_001395351.1:p.Pro442Argfs frameshift NM_001408423.1:c.1325_1326delCA NP_001395352.1:p.Pro442Argfs frameshift NM_001408424.1:c.1325_1326delCA NP_001395353.1:p.Pro442Argfs frameshift NM_001408425.1:c.1322_1323delCA NP_001395354.1:p.Pro441Argfs frameshift NM_001408426.1:c.1322_1323delCA NP_001395355.1:p.Pro441Argfs frameshift NM_001408427.1:c.1322_1323delCA NP_001395356.1:p.Pro441Argfs frameshift NM_001408428.1:c.1322_1323delCA NP_001395357.1:p.Pro441Argfs frameshift NM_001408429.1:c.1322_1323delCA NP_001395358.1:p.Pro441Argfs frameshift NM_001408430.1:c.1322_1323delCA NP_001395359.1:p.Pro441Argfs frameshift NM_001408431.1:c.1322_1323delCA NP_001395360.1:p.Pro441Argfs frameshift NM_001408432.1:c.1319_1320delCA NP_001395361.1:p.Pro440Argfs frameshift NM_001408433.1:c.1319_1320delCA NP_001395362.1:p.Pro440Argfs frameshift NM_001408434.1:c.1319_1320delCA NP_001395363.1:p.Pro440Argfs frameshift NM_001408435.1:c.1319_1320delCA NP_001395364.1:p.Pro440Argfs frameshift NM_001408436.1:c.1319_1320delCA NP_001395365.1:p.Pro440Argfs frameshift NM_001408437.1:c.1319_1320delCA NP_001395366.1:p.Pro440Argfs frameshift NM_001408438.1:c.1319_1320delCA NP_001395367.1:p.Pro440Argfs frameshift NM_001408439.1:c.1319_1320delCA NP_001395368.1:p.Pro440Argfs frameshift NM_001408440.1:c.1319_1320delCA NP_001395369.1:p.Pro440Argfs frameshift NM_001408441.1:c.1319_1320delCA NP_001395370.1:p.Pro440Argfs frameshift NM_001408442.1:c.1319_1320delCA NP_001395371.1:p.Pro440Argfs frameshift NM_001408443.1:c.1319_1320delCA NP_001395372.1:p.Pro440Argfs frameshift NM_001408444.1:c.1319_1320delCA NP_001395373.1:p.Pro440Argfs frameshift NM_001408445.1:c.1316_1317delCA NP_001395374.1:p.Pro439Argfs frameshift NM_001408446.1:c.1316_1317delCA NP_001395375.1:p.Pro439Argfs frameshift NM_001408447.1:c.1316_1317delCA NP_001395376.1:p.Pro439Argfs frameshift NM_001408448.1:c.1316_1317delCA NP_001395377.1:p.Pro439Argfs frameshift NM_001408450.1:c.1316_1317delCA NP_001395379.1:p.Pro439Argfs frameshift NM_001408451.1:c.1310_1311delCA NP_001395380.1:p.Pro437Argfs frameshift NM_001408452.1:c.1304_1305delCA NP_001395381.1:p.Pro435Argfs frameshift NM_001408453.1:c.1304_1305delCA NP_001395382.1:p.Pro435Argfs frameshift NM_001408454.1:c.1304_1305delCA NP_001395383.1:p.Pro435Argfs frameshift NM_001408455.1:c.1304_1305delCA NP_001395384.1:p.Pro435Argfs frameshift NM_001408456.1:c.1304_1305delCA NP_001395385.1:p.Pro435Argfs frameshift NM_001408457.1:c.1304_1305delCA NP_001395386.1:p.Pro435Argfs frameshift NM_001408458.1:c.1301_1302delCA NP_001395387.1:p.Pro434Argfs frameshift NM_001408459.1:c.1301_1302delCA NP_001395388.1:p.Pro434Argfs frameshift NM_001408460.1:c.1301_1302delCA NP_001395389.1:p.Pro434Argfs frameshift NM_001408461.1:c.1301_1302delCA NP_001395390.1:p.Pro434Argfs frameshift NM_001408462.1:c.1301_1302delCA NP_001395391.1:p.Pro434Argfs frameshift NM_001408463.1:c.1301_1302delCA NP_001395392.1:p.Pro434Argfs frameshift NM_001408464.1:c.1301_1302delCA NP_001395393.1:p.Pro434Argfs frameshift NM_001408465.1:c.1301_1302delCA NP_001395394.1:p.Pro434Argfs frameshift NM_001408466.1:c.1301_1302delCA NP_001395395.1:p.Pro434Argfs frameshift NM_001408467.1:c.1301_1302delCA NP_001395396.1:p.Pro434Argfs frameshift NM_001408468.1:c.1298_1299delCA NP_001395397.1:p.Pro433Argfs frameshift NM_001408469.1:c.1298_1299delCA NP_001395398.1:p.Pro433Argfs frameshift NM_001408470.1:c.1298_1299delCA NP_001395399.1:p.Pro433Argfs frameshift NM_001408472.1:c.1442_1443delCA NP_001395401.1:p.Pro481Argfs frameshift NM_001408473.1:c.1439_1440delCA NP_001395402.1:p.Pro480Argfs frameshift NM_001408474.1:c.1244_1245delCA NP_001395403.1:p.Pro415Argfs frameshift NM_001408475.1:c.1241_1242delCA NP_001395404.1:p.Pro414Argfs frameshift NM_001408476.1:c.1241_1242delCA NP_001395405.1:p.Pro414Argfs frameshift NM_001408478.1:c.1235_1236delCA NP_001395407.1:p.Pro412Argfs frameshift NM_001408479.1:c.1235_1236delCA NP_001395408.1:p.Pro412Argfs frameshift NM_001408480.1:c.1235_1236delCA NP_001395409.1:p.Pro412Argfs frameshift NM_001408481.1:c.1232_1233delCA NP_001395410.1:p.Pro411Argfs frameshift NM_001408482.1:c.1232_1233delCA NP_001395411.1:p.Pro411Argfs frameshift NM_001408483.1:c.1232_1233delCA NP_001395412.1:p.Pro411Argfs frameshift NM_001408484.1:c.1232_1233delCA NP_001395413.1:p.Pro411Argfs frameshift NM_001408485.1:c.1232_1233delCA NP_001395414.1:p.Pro411Argfs frameshift NM_001408489.1:c.1232_1233delCA NP_001395418.1:p.Pro411Argfs frameshift NM_001408490.1:c.1232_1233delCA NP_001395419.1:p.Pro411Argfs frameshift NM_001408491.1:c.1232_1233delCA NP_001395420.1:p.Pro411Argfs frameshift NM_001408492.1:c.1229_1230delCA NP_001395421.1:p.Pro410Argfs frameshift NM_001408493.1:c.1229_1230delCA NP_001395422.1:p.Pro410Argfs frameshift NM_001408494.1:c.1205_1206delCA NP_001395423.1:p.Pro402Argfs frameshift NM_001408495.1:c.1199_1200delCA NP_001395424.1:p.Pro400Argfs frameshift NM_001408496.1:c.1181_1182delCA NP_001395425.1:p.Pro394Argfs frameshift NM_001408497.1:c.1181_1182delCA NP_001395426.1:p.Pro394Argfs frameshift NM_001408498.1:c.1181_1182delCA NP_001395427.1:p.Pro394Argfs frameshift NM_001408499.1:c.1181_1182delCA NP_001395428.1:p.Pro394Argfs frameshift NM_001408500.1:c.1181_1182delCA NP_001395429.1:p.Pro394Argfs frameshift NM_001408501.1:c.1181_1182delCA NP_001395430.1:p.Pro394Argfs frameshift NM_001408502.1:c.1178_1179delCA NP_001395431.1:p.Pro393Argfs frameshift NM_001408503.1:c.1178_1179delCA NP_001395432.1:p.Pro393Argfs frameshift NM_001408504.1:c.1178_1179delCA NP_001395433.1:p.Pro393Argfs frameshift NM_001408505.1:c.1175_1176delCA NP_001395434.1:p.Pro392Argfs frameshift NM_001408506.1:c.1118_1119delCA NP_001395435.1:p.Pro373Argfs frameshift NM_001408507.1:c.1115_1116delCA NP_001395436.1:p.Pro372Argfs frameshift NM_001408508.1:c.1106_1107delCA NP_001395437.1:p.Pro369Argfs frameshift NM_001408509.1:c.1103_1104delCA NP_001395438.1:p.Pro368Argfs frameshift NM_001408510.1:c.1064_1065delCA NP_001395439.1:p.Pro355Argfs frameshift NM_001408511.1:c.1061_1062delCA NP_001395440.1:p.Pro354Argfs frameshift NM_001408512.1:c.941_942delCA NP_001395441.1:p.Pro314Argfs frameshift NM_001408513.1:c.914_915delCA NP_001395442.1:p.Pro305Argfs frameshift NM_007297.4:c.4613_4614del NP_009228.2:p.Pro1538fs frameshift NM_007298.4:c.1442_1443delCA NP_009229.2:p.Pro481Argfs frameshift NM_007299.4:c.1442_1443del NP_009230.2:p.Pro481fs frameshift NM_007300.4:c.4817_4818del NP_009231.2:p.Pro1606fs frameshift NM_007304.2:c.1442_1443delCA NP_009235.2:p.Pro481Argfs frameshift NR_027676.2:n.4931_4932del non-coding transcript variant NC_000017.11:g.43071159_43071160del NC_000017.10:g.41223176_41223177del NG_005905.2:g.146824_146825del LRG_292:g.146824_146825del LRG_292t1:c.4754_4755del LRG_292p1:p.Pro1585Argfs U14680.1:n.4873_4874delCA - Protein change
- P1585fs, P481fs, P1538fs, P1606fs
- Other names
- 4873delCA
- Canonical SPDI
- NC_000017.11:43071158:TG:
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13013 | 14815 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Pathogenic (5) |
reviewed by expert panel
|
Sep 8, 2016 | RCV000112394.17 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Sep 1, 2023 | RCV000219878.15 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Nov 29, 2021 | RCV000483332.12 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Jun 5, 2023 | RCV000607763.18 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
---|---|---|---|---|---|
Pathogenic
(Sep 08, 2016)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000300159.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
Pathogenic
(Apr 21, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Michigan Medical Genetics Laboratories, University of Michigan
Accession: SCV000267715.1
First in ClinVar: May 06, 2016 Last updated: May 06, 2016 |
Tissue: Blood
|
|
Pathogenic
(Jul 20, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
(Autosomal dominant inheritance)
Affected status: not provided
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000731762.1
First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
Comment:
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 … (more)
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. (less)
Number of individuals with the variant: 1
|
|
Pathogenic
(Oct 29, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001469394.1
First in ClinVar: Jan 26, 2021 Last updated: Jan 26, 2021 |
Comment:
The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in … (more)
The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data. (less)
|
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Pathogenic
(Sep 01, 2023)
|
criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV000683211.3
First in ClinVar: Feb 19, 2018 Last updated: Feb 14, 2024 |
Comment:
This variant deletes 2 nucleotides in exon 15 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
This variant deletes 2 nucleotides in exon 15 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. To our knowledge, functional studies have not been reported for this variant. This variant has been observed in an individual affected with breast cancer (PMID: 27697421) and multiple suspected hereditary breast and ovarian cancer families (PMID: 8875986, 14672397, 15340362, 29446198, 29907814). 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. (less)
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Pathogenic
(Jun 05, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV001582496.4
First in ClinVar: May 10, 2021 Last updated: Feb 20, 2024 |
Comment:
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 … (more)
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. (less)
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Pathogenic
(Oct 02, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000326041.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Nov 29, 2021)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000566842.6
First in ClinVar: Apr 27, 2017 Last updated: Mar 04, 2023 |
Comment:
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not … (more)
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek et al., 2016); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 4873_4874del; This variant is associated with the following publications: (PMID: 30613976, 31447099, 29907814, 8875986) (less)
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Pathogenic
(Nov 07, 2023)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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All of Us Research Program, National Institutes of Health
Accession: SCV004817632.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
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Comment:
This variant deletes 2 nucleotides in exon 15 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
This variant deletes 2 nucleotides in exon 15 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. To our knowledge, functional studies have not been reported for this variant. This variant has been observed in an individual affected with breast cancer (PMID: 27697421) and multiple suspected hereditary breast and ovarian cancer families (PMID: 8875986, 14672397, 15340362, 29446198, 29907814). 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. (less)
Number of individuals with the variant: 2
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Pathogenic
(Aug 31, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000273783.7
First in ClinVar: May 29, 2016 Last updated: May 01, 2024 |
Comment:
The c.4754_4755delCA pathogenic mutation, located in coding exon 14 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 4754 to … (more)
The c.4754_4755delCA pathogenic mutation, located in coding exon 14 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 4754 to 4755, causing a translational frameshift with a predicted alternate stop codon (p.P1585Rfs*36). This mutation has been identified in 1/36 Italian breast and/or ovarian cancer families (Caligo MA et al. Oncogene, 1996 Oct;13:1483-8) and in 2/649 Brazilian probands who underwent testing for BRCA1 and BRCA2 mutations (Palmero EI et al. Sci Rep, 2018 Jun;8:9188). Of note, this alteration has also been reported as 4873delCA in published literature. 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. (less)
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Pathogenic
(May 29, 2002)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000145174.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 1
Ethnicity/Population group: Native American
Observation 2:
Number of individuals with the variant: 3
Ethnicity/Population group: Western European
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
The germline mutational landscape of BRCA1 and BRCA2 in Brazil. | Palmero EI | Scientific reports | 2018 | PMID: 29907814 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
Carcinosarcoma of the Breast: An Aggressive Subtype of Metaplastic Cancer. Report of a Rare Case in a Young BRCA-1 Mutated Woman. | Ghilli M | Clinical breast cancer | 2017 | PMID: 27697421 |
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations. | Marroni F | European journal of human genetics : EJHG | 2004 | PMID: 15340362 |
p53 inactivation is a rare event in familial breast tumors negative for BRCA1 and BRCA2 mutations. | Sensi E | Breast cancer research and treatment | 2003 | PMID: 14672397 |
BRCA1 germline mutational spectrum in Italian families from Tuscany: a high frequency of novel mutations. | Caligo MA | Oncogene | 1996 | PMID: 8875986 |
Text-mined citations for rs80357837 ...
HelpRecord last updated Aug 25, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.