ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5091T>A (p.Cys1697Ter)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.5091T>A (p.Cys1697Ter)
Variation ID: 867632 Accession: VCV000867632.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43063935 (GRCh38) [ NCBI UCSC ] 17: 41215952 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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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 18, 2020 Apr 18, 2020 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5091T>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Cys1697Ter nonsense NM_001407571.1:c.4878T>A NP_001394500.1:p.Cys1626Ter nonsense NM_001407581.1:c.5157T>A NP_001394510.1:p.Cys1719Ter nonsense NM_001407582.1:c.5157T>A NP_001394511.1:p.Cys1719Ter nonsense NM_001407583.1:c.5154T>A NP_001394512.1:p.Cys1718Ter nonsense NM_001407585.1:c.5154T>A NP_001394514.1:p.Cys1718Ter nonsense NM_001407587.1:c.5154T>A NP_001394516.1:p.Cys1718Ter nonsense NM_001407590.1:c.5151T>A NP_001394519.1:p.Cys1717Ter nonsense NM_001407591.1:c.5151T>A NP_001394520.1:p.Cys1717Ter nonsense NM_001407593.1:c.5091T>A NP_001394522.1:p.Cys1697Ter nonsense NM_001407594.1:c.5091T>A NP_001394523.1:p.Cys1697Ter nonsense NM_001407596.1:c.5091T>A NP_001394525.1:p.Cys1697Ter nonsense NM_001407597.1:c.5091T>A NP_001394526.1:p.Cys1697Ter nonsense NM_001407598.1:c.5091T>A NP_001394527.1:p.Cys1697Ter nonsense NM_001407602.1:c.5091T>A NP_001394531.1:p.Cys1697Ter nonsense NM_001407603.1:c.5091T>A NP_001394532.1:p.Cys1697Ter nonsense NM_001407605.1:c.5091T>A NP_001394534.1:p.Cys1697Ter nonsense NM_001407610.1:c.5088T>A NP_001394539.1:p.Cys1696Ter nonsense NM_001407611.1:c.5088T>A NP_001394540.1:p.Cys1696Ter nonsense NM_001407612.1:c.5088T>A NP_001394541.1:p.Cys1696Ter nonsense NM_001407613.1:c.5088T>A NP_001394542.1:p.Cys1696Ter nonsense NM_001407614.1:c.5088T>A NP_001394543.1:p.Cys1696Ter nonsense NM_001407615.1:c.5088T>A NP_001394544.1:p.Cys1696Ter nonsense NM_001407616.1:c.5088T>A NP_001394545.1:p.Cys1696Ter nonsense NM_001407617.1:c.5088T>A NP_001394546.1:p.Cys1696Ter nonsense NM_001407618.1:c.5088T>A NP_001394547.1:p.Cys1696Ter nonsense NM_001407619.1:c.5088T>A NP_001394548.1:p.Cys1696Ter nonsense NM_001407620.1:c.5088T>A NP_001394549.1:p.Cys1696Ter nonsense NM_001407621.1:c.5088T>A NP_001394550.1:p.Cys1696Ter nonsense NM_001407622.1:c.5088T>A NP_001394551.1:p.Cys1696Ter nonsense NM_001407623.1:c.5088T>A NP_001394552.1:p.Cys1696Ter nonsense NM_001407624.1:c.5088T>A NP_001394553.1:p.Cys1696Ter nonsense NM_001407625.1:c.5088T>A NP_001394554.1:p.Cys1696Ter nonsense NM_001407626.1:c.5088T>A NP_001394555.1:p.Cys1696Ter nonsense NM_001407627.1:c.5085T>A NP_001394556.1:p.Cys1695Ter nonsense NM_001407628.1:c.5085T>A NP_001394557.1:p.Cys1695Ter nonsense NM_001407629.1:c.5085T>A NP_001394558.1:p.Cys1695Ter nonsense NM_001407630.1:c.5085T>A NP_001394559.1:p.Cys1695Ter nonsense NM_001407631.1:c.5085T>A NP_001394560.1:p.Cys1695Ter nonsense NM_001407632.1:c.5085T>A NP_001394561.1:p.Cys1695Ter nonsense NM_001407633.1:c.5085T>A NP_001394562.1:p.Cys1695Ter nonsense NM_001407634.1:c.5085T>A NP_001394563.1:p.Cys1695Ter nonsense NM_001407635.1:c.5085T>A NP_001394564.1:p.Cys1695Ter nonsense NM_001407636.1:c.5085T>A NP_001394565.1:p.Cys1695Ter nonsense NM_001407637.1:c.5085T>A NP_001394566.1:p.Cys1695Ter nonsense NM_001407638.1:c.5085T>A NP_001394567.1:p.Cys1695Ter nonsense NM_001407639.1:c.5085T>A NP_001394568.1:p.Cys1695Ter nonsense NM_001407640.1:c.5085T>A NP_001394569.1:p.Cys1695Ter nonsense NM_001407641.1:c.5085T>A NP_001394570.1:p.Cys1695Ter nonsense NM_001407642.1:c.5085T>A NP_001394571.1:p.Cys1695Ter nonsense NM_001407644.1:c.5082T>A NP_001394573.1:p.Cys1694Ter nonsense NM_001407645.1:c.5082T>A NP_001394574.1:p.Cys1694Ter nonsense NM_001407646.1:c.5079T>A NP_001394575.1:p.Cys1693Ter nonsense NM_001407647.1:c.5076T>A NP_001394576.1:p.Cys1692Ter nonsense NM_001407648.1:c.5034T>A NP_001394577.1:p.Cys1678Ter nonsense NM_001407649.1:c.5031T>A NP_001394578.1:p.Cys1677Ter nonsense NM_001407653.1:c.5013T>A NP_001394582.1:p.Cys1671Ter nonsense NM_001407654.1:c.5013T>A NP_001394583.1:p.Cys1671Ter nonsense NM_001407655.1:c.5013T>A NP_001394584.1:p.Cys1671Ter nonsense NM_001407656.1:c.5010T>A NP_001394585.1:p.Cys1670Ter nonsense NM_001407657.1:c.5010T>A NP_001394586.1:p.Cys1670Ter nonsense NM_001407658.1:c.5010T>A NP_001394587.1:p.Cys1670Ter nonsense NM_001407659.1:c.5007T>A NP_001394588.1:p.Cys1669Ter nonsense NM_001407660.1:c.5007T>A NP_001394589.1:p.Cys1669Ter nonsense NM_001407661.1:c.5007T>A NP_001394590.1:p.Cys1669Ter nonsense NM_001407662.1:c.5007T>A NP_001394591.1:p.Cys1669Ter nonsense NM_001407663.1:c.5007T>A NP_001394592.1:p.Cys1669Ter nonsense NM_001407664.1:c.4968T>A NP_001394593.1:p.Cys1656Ter nonsense NM_001407665.1:c.4968T>A NP_001394594.1:p.Cys1656Ter nonsense NM_001407666.1:c.4968T>A NP_001394595.1:p.Cys1656Ter nonsense NM_001407667.1:c.4968T>A NP_001394596.1:p.Cys1656Ter nonsense NM_001407668.1:c.4968T>A NP_001394597.1:p.Cys1656Ter nonsense NM_001407669.1:c.4968T>A NP_001394598.1:p.Cys1656Ter nonsense NM_001407670.1:c.4965T>A NP_001394599.1:p.Cys1655Ter nonsense NM_001407671.1:c.4965T>A NP_001394600.1:p.Cys1655Ter nonsense NM_001407672.1:c.4965T>A NP_001394601.1:p.Cys1655Ter nonsense NM_001407673.1:c.4965T>A NP_001394602.1:p.Cys1655Ter nonsense NM_001407674.1:c.4965T>A NP_001394603.1:p.Cys1655Ter nonsense NM_001407675.1:c.4965T>A NP_001394604.1:p.Cys1655Ter nonsense NM_001407676.1:c.4965T>A NP_001394605.1:p.Cys1655Ter nonsense NM_001407677.1:c.4965T>A NP_001394606.1:p.Cys1655Ter nonsense NM_001407678.1:c.4965T>A NP_001394607.1:p.Cys1655Ter nonsense NM_001407679.1:c.4965T>A NP_001394608.1:p.Cys1655Ter nonsense NM_001407680.1:c.4965T>A NP_001394609.1:p.Cys1655Ter nonsense NM_001407681.1:c.4962T>A NP_001394610.1:p.Cys1654Ter nonsense NM_001407682.1:c.4962T>A NP_001394611.1:p.Cys1654Ter nonsense NM_001407683.1:c.4962T>A NP_001394612.1:p.Cys1654Ter nonsense NM_001407684.1:c.5091T>A NP_001394613.1:p.Cys1697Ter nonsense NM_001407685.1:c.4962T>A NP_001394614.1:p.Cys1654Ter nonsense NM_001407686.1:c.4962T>A NP_001394615.1:p.Cys1654Ter nonsense NM_001407687.1:c.4962T>A NP_001394616.1:p.Cys1654Ter nonsense NM_001407688.1:c.4962T>A NP_001394617.1:p.Cys1654Ter nonsense NM_001407689.1:c.4962T>A NP_001394618.1:p.Cys1654Ter nonsense NM_001407690.1:c.4959T>A NP_001394619.1:p.Cys1653Ter nonsense NM_001407691.1:c.4959T>A NP_001394620.1:p.Cys1653Ter nonsense NM_001407692.1:c.4950T>A NP_001394621.1:p.Cys1650Ter nonsense NM_001407694.1:c.4950T>A NP_001394623.1:p.Cys1650Ter nonsense NM_001407695.1:c.4950T>A NP_001394624.1:p.Cys1650Ter nonsense NM_001407696.1:c.4950T>A NP_001394625.1:p.Cys1650Ter nonsense NM_001407697.1:c.4950T>A NP_001394626.1:p.Cys1650Ter nonsense NM_001407698.1:c.4950T>A NP_001394627.1:p.Cys1650Ter nonsense NM_001407724.1:c.4950T>A NP_001394653.1:p.Cys1650Ter nonsense NM_001407725.1:c.4950T>A NP_001394654.1:p.Cys1650Ter nonsense NM_001407726.1:c.4950T>A NP_001394655.1:p.Cys1650Ter nonsense NM_001407727.1:c.4950T>A NP_001394656.1:p.Cys1650Ter nonsense NM_001407728.1:c.4950T>A NP_001394657.1:p.Cys1650Ter nonsense NM_001407729.1:c.4950T>A NP_001394658.1:p.Cys1650Ter nonsense NM_001407730.1:c.4950T>A NP_001394659.1:p.Cys1650Ter nonsense NM_001407731.1:c.4950T>A NP_001394660.1:p.Cys1650Ter nonsense NM_001407732.1:c.4947T>A NP_001394661.1:p.Cys1649Ter nonsense NM_001407733.1:c.4947T>A NP_001394662.1:p.Cys1649Ter nonsense NM_001407734.1:c.4947T>A NP_001394663.1:p.Cys1649Ter nonsense NM_001407735.1:c.4947T>A NP_001394664.1:p.Cys1649Ter nonsense NM_001407736.1:c.4947T>A NP_001394665.1:p.Cys1649Ter nonsense NM_001407737.1:c.4947T>A NP_001394666.1:p.Cys1649Ter nonsense NM_001407738.1:c.4947T>A NP_001394667.1:p.Cys1649Ter nonsense NM_001407739.1:c.4947T>A NP_001394668.1:p.Cys1649Ter nonsense NM_001407740.1:c.4947T>A NP_001394669.1:p.Cys1649Ter nonsense NM_001407741.1:c.4947T>A NP_001394670.1:p.Cys1649Ter nonsense NM_001407742.1:c.4947T>A NP_001394671.1:p.Cys1649Ter nonsense NM_001407743.1:c.4947T>A NP_001394672.1:p.Cys1649Ter nonsense NM_001407744.1:c.4947T>A NP_001394673.1:p.Cys1649Ter nonsense NM_001407745.1:c.4947T>A NP_001394674.1:p.Cys1649Ter nonsense NM_001407746.1:c.4947T>A NP_001394675.1:p.Cys1649Ter nonsense NM_001407747.1:c.4947T>A NP_001394676.1:p.Cys1649Ter nonsense NM_001407748.1:c.4947T>A NP_001394677.1:p.Cys1649Ter nonsense NM_001407749.1:c.4947T>A NP_001394678.1:p.Cys1649Ter nonsense NM_001407750.1:c.4947T>A NP_001394679.1:p.Cys1649Ter nonsense NM_001407751.1:c.4947T>A NP_001394680.1:p.Cys1649Ter nonsense NM_001407752.1:c.4947T>A NP_001394681.1:p.Cys1649Ter nonsense NM_001407838.1:c.4944T>A NP_001394767.1:p.Cys1648Ter nonsense NM_001407839.1:c.4944T>A NP_001394768.1:p.Cys1648Ter nonsense NM_001407841.1:c.4944T>A NP_001394770.1:p.Cys1648Ter nonsense NM_001407842.1:c.4944T>A NP_001394771.1:p.Cys1648Ter nonsense NM_001407843.1:c.4944T>A NP_001394772.1:p.Cys1648Ter nonsense NM_001407844.1:c.4944T>A NP_001394773.1:p.Cys1648Ter nonsense NM_001407845.1:c.4944T>A NP_001394774.1:p.Cys1648Ter nonsense NM_001407846.1:c.4944T>A NP_001394775.1:p.Cys1648Ter nonsense NM_001407847.1:c.4944T>A NP_001394776.1:p.Cys1648Ter nonsense NM_001407848.1:c.4944T>A NP_001394777.1:p.Cys1648Ter nonsense NM_001407849.1:c.4944T>A NP_001394778.1:p.Cys1648Ter nonsense NM_001407850.1:c.4944T>A NP_001394779.1:p.Cys1648Ter nonsense NM_001407851.1:c.4944T>A NP_001394780.1:p.Cys1648Ter nonsense NM_001407852.1:c.4944T>A NP_001394781.1:p.Cys1648Ter nonsense NM_001407853.1:c.4944T>A NP_001394782.1:p.Cys1648Ter nonsense NM_001407854.1:c.5091T>A NP_001394783.1:p.Cys1697Ter nonsense NM_001407858.1:c.5088T>A NP_001394787.1:p.Cys1696Ter nonsense NM_001407859.1:c.5088T>A NP_001394788.1:p.Cys1696Ter nonsense NM_001407860.1:c.5088T>A NP_001394789.1:p.Cys1696Ter nonsense NM_001407861.1:c.5085T>A NP_001394790.1:p.Cys1695Ter nonsense NM_001407862.1:c.4890T>A NP_001394791.1:p.Cys1630Ter nonsense NM_001407874.1:c.4884T>A NP_001394803.1:p.Cys1628Ter nonsense NM_001407875.1:c.4884T>A NP_001394804.1:p.Cys1628Ter nonsense NM_001407879.1:c.4881T>A NP_001394808.1:p.Cys1627Ter nonsense NM_001407881.1:c.4881T>A NP_001394810.1:p.Cys1627Ter nonsense NM_001407882.1:c.4881T>A NP_001394811.1:p.Cys1627Ter nonsense NM_001407884.1:c.4881T>A NP_001394813.1:p.Cys1627Ter nonsense NM_001407885.1:c.4881T>A NP_001394814.1:p.Cys1627Ter nonsense NM_001407886.1:c.4881T>A NP_001394815.1:p.Cys1627Ter nonsense NM_001407887.1:c.4881T>A NP_001394816.1:p.Cys1627Ter nonsense NM_001407889.1:c.4881T>A NP_001394818.1:p.Cys1627Ter nonsense NM_001407894.1:c.4878T>A NP_001394823.1:p.Cys1626Ter nonsense NM_001407895.1:c.4878T>A NP_001394824.1:p.Cys1626Ter nonsense NM_001407896.1:c.4878T>A NP_001394825.1:p.Cys1626Ter nonsense NM_001407897.1:c.4878T>A NP_001394826.1:p.Cys1626Ter nonsense NM_001407898.1:c.4878T>A NP_001394827.1:p.Cys1626Ter nonsense NM_001407899.1:c.4878T>A NP_001394828.1:p.Cys1626Ter nonsense NM_001407900.1:c.4878T>A NP_001394829.1:p.Cys1626Ter nonsense NM_001407902.1:c.4878T>A NP_001394831.1:p.Cys1626Ter nonsense NM_001407904.1:c.4878T>A NP_001394833.1:p.Cys1626Ter nonsense NM_001407906.1:c.4878T>A NP_001394835.1:p.Cys1626Ter nonsense NM_001407907.1:c.4878T>A NP_001394836.1:p.Cys1626Ter nonsense NM_001407908.1:c.4878T>A NP_001394837.1:p.Cys1626Ter nonsense NM_001407909.1:c.4878T>A NP_001394838.1:p.Cys1626Ter nonsense NM_001407910.1:c.4878T>A NP_001394839.1:p.Cys1626Ter nonsense NM_001407915.1:c.4875T>A NP_001394844.1:p.Cys1625Ter nonsense NM_001407916.1:c.4875T>A NP_001394845.1:p.Cys1625Ter nonsense NM_001407917.1:c.4875T>A NP_001394846.1:p.Cys1625Ter nonsense NM_001407918.1:c.4875T>A NP_001394847.1:p.Cys1625Ter nonsense NM_001407919.1:c.4968T>A NP_001394848.1:p.Cys1656Ter nonsense NM_001407920.1:c.4827T>A NP_001394849.1:p.Cys1609Ter nonsense NM_001407921.1:c.4827T>A NP_001394850.1:p.Cys1609Ter nonsense NM_001407922.1:c.4827T>A NP_001394851.1:p.Cys1609Ter nonsense NM_001407923.1:c.4827T>A NP_001394852.1:p.Cys1609Ter nonsense NM_001407924.1:c.4827T>A NP_001394853.1:p.Cys1609Ter nonsense NM_001407925.1:c.4827T>A NP_001394854.1:p.Cys1609Ter nonsense NM_001407926.1:c.4827T>A NP_001394855.1:p.Cys1609Ter nonsense NM_001407927.1:c.4824T>A NP_001394856.1:p.Cys1608Ter nonsense NM_001407928.1:c.4824T>A NP_001394857.1:p.Cys1608Ter nonsense NM_001407929.1:c.4824T>A NP_001394858.1:p.Cys1608Ter nonsense NM_001407930.1:c.4824T>A NP_001394859.1:p.Cys1608Ter nonsense NM_001407931.1:c.4824T>A NP_001394860.1:p.Cys1608Ter nonsense NM_001407932.1:c.4824T>A NP_001394861.1:p.Cys1608Ter nonsense NM_001407933.1:c.4824T>A NP_001394862.1:p.Cys1608Ter nonsense NM_001407934.1:c.4821T>A NP_001394863.1:p.Cys1607Ter nonsense NM_001407935.1:c.4821T>A NP_001394864.1:p.Cys1607Ter nonsense NM_001407936.1:c.4821T>A NP_001394865.1:p.Cys1607Ter nonsense NM_001407937.1:c.4968T>A NP_001394866.1:p.Cys1656Ter nonsense NM_001407938.1:c.4968T>A NP_001394867.1:p.Cys1656Ter nonsense NM_001407939.1:c.4965T>A NP_001394868.1:p.Cys1655Ter nonsense NM_001407940.1:c.4965T>A NP_001394869.1:p.Cys1655Ter nonsense NM_001407941.1:c.4962T>A NP_001394870.1:p.Cys1654Ter nonsense NM_001407942.1:c.4950T>A NP_001394871.1:p.Cys1650Ter nonsense NM_001407943.1:c.4947T>A NP_001394872.1:p.Cys1649Ter nonsense NM_001407944.1:c.4947T>A NP_001394873.1:p.Cys1649Ter nonsense NM_001407945.1:c.4947T>A NP_001394874.1:p.Cys1649Ter nonsense NM_001407946.1:c.4758T>A NP_001394875.1:p.Cys1586Ter nonsense NM_001407947.1:c.4758T>A NP_001394876.1:p.Cys1586Ter nonsense NM_001407948.1:c.4758T>A NP_001394877.1:p.Cys1586Ter nonsense NM_001407949.1:c.4758T>A NP_001394878.1:p.Cys1586Ter nonsense NM_001407950.1:c.4755T>A NP_001394879.1:p.Cys1585Ter nonsense NM_001407951.1:c.4755T>A NP_001394880.1:p.Cys1585Ter nonsense NM_001407952.1:c.4755T>A NP_001394881.1:p.Cys1585Ter nonsense NM_001407953.1:c.4755T>A NP_001394882.1:p.Cys1585Ter nonsense NM_001407954.1:c.4755T>A NP_001394883.1:p.Cys1585Ter nonsense NM_001407955.1:c.4755T>A NP_001394884.1:p.Cys1585Ter nonsense NM_001407956.1:c.4752T>A NP_001394885.1:p.Cys1584Ter nonsense NM_001407957.1:c.4752T>A NP_001394886.1:p.Cys1584Ter nonsense NM_001407958.1:c.4752T>A NP_001394887.1:p.Cys1584Ter nonsense NM_001407959.1:c.4710T>A NP_001394888.1:p.Cys1570Ter nonsense NM_001407960.1:c.4707T>A NP_001394889.1:p.Cys1569Ter nonsense NM_001407962.1:c.4707T>A NP_001394891.1:p.Cys1569Ter nonsense NM_001407963.1:c.4704T>A NP_001394892.1:p.Cys1568Ter nonsense NM_001407964.1:c.4629T>A NP_001394893.1:p.Cys1543Ter nonsense NM_001407965.1:c.4584T>A NP_001394894.1:p.Cys1528Ter nonsense NM_001407966.1:c.4203T>A NP_001394895.1:p.Cys1401Ter nonsense NM_001407967.1:c.4200T>A NP_001394896.1:p.Cys1400Ter nonsense NM_001407968.1:c.2487T>A NP_001394897.1:p.Cys829Ter nonsense NM_001407969.1:c.2484T>A NP_001394898.1:p.Cys828Ter nonsense NM_001407970.1:c.1848T>A NP_001394899.1:p.Cys616Ter nonsense NM_001407971.1:c.1848T>A NP_001394900.1:p.Cys616Ter nonsense NM_001407972.1:c.1845T>A NP_001394901.1:p.Cys615Ter nonsense NM_001407973.1:c.1782T>A NP_001394902.1:p.Cys594Ter nonsense NM_001407974.1:c.1782T>A NP_001394903.1:p.Cys594Ter nonsense NM_001407975.1:c.1782T>A NP_001394904.1:p.Cys594Ter nonsense NM_001407976.1:c.1782T>A NP_001394905.1:p.Cys594Ter nonsense NM_001407977.1:c.1782T>A NP_001394906.1:p.Cys594Ter nonsense NM_001407978.1:c.1782T>A NP_001394907.1:p.Cys594Ter nonsense NM_001407979.1:c.1779T>A NP_001394908.1:p.Cys593Ter nonsense NM_001407980.1:c.1779T>A NP_001394909.1:p.Cys593Ter nonsense NM_001407981.1:c.1779T>A NP_001394910.1:p.Cys593Ter nonsense NM_001407982.1:c.1779T>A NP_001394911.1:p.Cys593Ter nonsense NM_001407983.1:c.1779T>A NP_001394912.1:p.Cys593Ter nonsense NM_001407984.1:c.1779T>A NP_001394913.1:p.Cys593Ter nonsense NM_001407985.1:c.1779T>A NP_001394914.1:p.Cys593Ter nonsense NM_001407986.1:c.1779T>A NP_001394915.1:p.Cys593Ter nonsense NM_001407990.1:c.1779T>A NP_001394919.1:p.Cys593Ter nonsense NM_001407991.1:c.1779T>A NP_001394920.1:p.Cys593Ter nonsense NM_001407992.1:c.1779T>A NP_001394921.1:p.Cys593Ter nonsense NM_001407993.1:c.1779T>A NP_001394922.1:p.Cys593Ter nonsense NM_001408392.1:c.1776T>A NP_001395321.1:p.Cys592Ter nonsense NM_001408396.1:c.1776T>A NP_001395325.1:p.Cys592Ter nonsense NM_001408397.1:c.1776T>A NP_001395326.1:p.Cys592Ter nonsense NM_001408398.1:c.1776T>A NP_001395327.1:p.Cys592Ter nonsense NM_001408399.1:c.1776T>A NP_001395328.1:p.Cys592Ter nonsense NM_001408400.1:c.1776T>A NP_001395329.1:p.Cys592Ter nonsense NM_001408401.1:c.1776T>A NP_001395330.1:p.Cys592Ter nonsense NM_001408402.1:c.1776T>A NP_001395331.1:p.Cys592Ter nonsense NM_001408403.1:c.1776T>A NP_001395332.1:p.Cys592Ter nonsense NM_001408404.1:c.1776T>A NP_001395333.1:p.Cys592Ter nonsense NM_001408406.1:c.1773T>A NP_001395335.1:p.Cys591Ter nonsense NM_001408407.1:c.1773T>A NP_001395336.1:p.Cys591Ter nonsense NM_001408408.1:c.1773T>A NP_001395337.1:p.Cys591Ter nonsense NM_001408409.1:c.1770T>A NP_001395338.1:p.Cys590Ter nonsense NM_001408410.1:c.1707T>A NP_001395339.1:p.Cys569Ter nonsense NM_001408411.1:c.1704T>A NP_001395340.1:p.Cys568Ter nonsense NM_001408412.1:c.1701T>A NP_001395341.1:p.Cys567Ter nonsense NM_001408413.1:c.1701T>A NP_001395342.1:p.Cys567Ter nonsense NM_001408414.1:c.1701T>A NP_001395343.1:p.Cys567Ter nonsense NM_001408415.1:c.1701T>A NP_001395344.1:p.Cys567Ter nonsense NM_001408416.1:c.1701T>A NP_001395345.1:p.Cys567Ter nonsense NM_001408418.1:c.1665T>A NP_001395347.1:p.Cys555Ter nonsense NM_001408419.1:c.1665T>A NP_001395348.1:p.Cys555Ter nonsense NM_001408420.1:c.1665T>A NP_001395349.1:p.Cys555Ter nonsense NM_001408421.1:c.1662T>A NP_001395350.1:p.Cys554Ter nonsense NM_001408422.1:c.1662T>A NP_001395351.1:p.Cys554Ter nonsense NM_001408423.1:c.1662T>A NP_001395352.1:p.Cys554Ter nonsense NM_001408424.1:c.1662T>A NP_001395353.1:p.Cys554Ter nonsense NM_001408425.1:c.1659T>A NP_001395354.1:p.Cys553Ter nonsense NM_001408426.1:c.1659T>A NP_001395355.1:p.Cys553Ter nonsense NM_001408427.1:c.1659T>A NP_001395356.1:p.Cys553Ter nonsense NM_001408428.1:c.1659T>A NP_001395357.1:p.Cys553Ter nonsense NM_001408429.1:c.1659T>A NP_001395358.1:p.Cys553Ter nonsense NM_001408430.1:c.1659T>A NP_001395359.1:p.Cys553Ter nonsense NM_001408431.1:c.1659T>A NP_001395360.1:p.Cys553Ter nonsense NM_001408432.1:c.1656T>A NP_001395361.1:p.Cys552Ter nonsense NM_001408433.1:c.1656T>A NP_001395362.1:p.Cys552Ter nonsense NM_001408434.1:c.1656T>A NP_001395363.1:p.Cys552Ter nonsense NM_001408435.1:c.1656T>A NP_001395364.1:p.Cys552Ter nonsense NM_001408436.1:c.1656T>A NP_001395365.1:p.Cys552Ter nonsense NM_001408437.1:c.1656T>A NP_001395366.1:p.Cys552Ter nonsense NM_001408438.1:c.1656T>A NP_001395367.1:p.Cys552Ter nonsense NM_001408439.1:c.1656T>A NP_001395368.1:p.Cys552Ter nonsense NM_001408440.1:c.1656T>A NP_001395369.1:p.Cys552Ter nonsense NM_001408441.1:c.1656T>A NP_001395370.1:p.Cys552Ter nonsense NM_001408442.1:c.1656T>A NP_001395371.1:p.Cys552Ter nonsense NM_001408443.1:c.1656T>A NP_001395372.1:p.Cys552Ter nonsense NM_001408444.1:c.1656T>A NP_001395373.1:p.Cys552Ter nonsense NM_001408445.1:c.1653T>A NP_001395374.1:p.Cys551Ter nonsense NM_001408446.1:c.1653T>A NP_001395375.1:p.Cys551Ter nonsense NM_001408447.1:c.1653T>A NP_001395376.1:p.Cys551Ter nonsense NM_001408448.1:c.1653T>A NP_001395377.1:p.Cys551Ter nonsense NM_001408450.1:c.1653T>A NP_001395379.1:p.Cys551Ter nonsense NM_001408451.1:c.1647T>A NP_001395380.1:p.Cys549Ter nonsense NM_001408452.1:c.1641T>A NP_001395381.1:p.Cys547Ter nonsense NM_001408453.1:c.1641T>A NP_001395382.1:p.Cys547Ter nonsense NM_001408454.1:c.1641T>A NP_001395383.1:p.Cys547Ter nonsense NM_001408455.1:c.1641T>A NP_001395384.1:p.Cys547Ter nonsense NM_001408456.1:c.1641T>A NP_001395385.1:p.Cys547Ter nonsense NM_001408457.1:c.1641T>A NP_001395386.1:p.Cys547Ter nonsense NM_001408458.1:c.1638T>A NP_001395387.1:p.Cys546Ter nonsense NM_001408459.1:c.1638T>A NP_001395388.1:p.Cys546Ter nonsense NM_001408460.1:c.1638T>A NP_001395389.1:p.Cys546Ter nonsense NM_001408461.1:c.1638T>A NP_001395390.1:p.Cys546Ter nonsense NM_001408462.1:c.1638T>A NP_001395391.1:p.Cys546Ter nonsense NM_001408463.1:c.1638T>A NP_001395392.1:p.Cys546Ter nonsense NM_001408464.1:c.1638T>A NP_001395393.1:p.Cys546Ter nonsense NM_001408465.1:c.1638T>A NP_001395394.1:p.Cys546Ter nonsense NM_001408466.1:c.1638T>A NP_001395395.1:p.Cys546Ter nonsense NM_001408467.1:c.1638T>A NP_001395396.1:p.Cys546Ter nonsense NM_001408468.1:c.1635T>A NP_001395397.1:p.Cys545Ter nonsense NM_001408469.1:c.1635T>A NP_001395398.1:p.Cys545Ter nonsense NM_001408470.1:c.1635T>A NP_001395399.1:p.Cys545Ter nonsense NM_001408472.1:c.1779T>A NP_001395401.1:p.Cys593Ter nonsense NM_001408473.1:c.1776T>A NP_001395402.1:p.Cys592Ter nonsense NM_001408474.1:c.1581T>A NP_001395403.1:p.Cys527Ter nonsense NM_001408475.1:c.1578T>A NP_001395404.1:p.Cys526Ter nonsense NM_001408476.1:c.1578T>A NP_001395405.1:p.Cys526Ter nonsense NM_001408478.1:c.1572T>A NP_001395407.1:p.Cys524Ter nonsense NM_001408479.1:c.1572T>A NP_001395408.1:p.Cys524Ter nonsense NM_001408480.1:c.1572T>A NP_001395409.1:p.Cys524Ter nonsense NM_001408481.1:c.1569T>A NP_001395410.1:p.Cys523Ter nonsense NM_001408482.1:c.1569T>A NP_001395411.1:p.Cys523Ter nonsense NM_001408483.1:c.1569T>A NP_001395412.1:p.Cys523Ter nonsense NM_001408484.1:c.1569T>A NP_001395413.1:p.Cys523Ter nonsense NM_001408485.1:c.1569T>A NP_001395414.1:p.Cys523Ter nonsense NM_001408489.1:c.1569T>A NP_001395418.1:p.Cys523Ter nonsense NM_001408490.1:c.1569T>A NP_001395419.1:p.Cys523Ter nonsense NM_001408491.1:c.1569T>A NP_001395420.1:p.Cys523Ter nonsense NM_001408492.1:c.1566T>A NP_001395421.1:p.Cys522Ter nonsense NM_001408493.1:c.1566T>A NP_001395422.1:p.Cys522Ter nonsense NM_001408494.1:c.1542T>A NP_001395423.1:p.Cys514Ter nonsense NM_001408495.1:c.1536T>A NP_001395424.1:p.Cys512Ter nonsense NM_001408496.1:c.1518T>A NP_001395425.1:p.Cys506Ter nonsense NM_001408497.1:c.1518T>A NP_001395426.1:p.Cys506Ter nonsense NM_001408498.1:c.1518T>A NP_001395427.1:p.Cys506Ter nonsense NM_001408499.1:c.1518T>A NP_001395428.1:p.Cys506Ter nonsense NM_001408500.1:c.1518T>A NP_001395429.1:p.Cys506Ter nonsense NM_001408501.1:c.1518T>A NP_001395430.1:p.Cys506Ter nonsense NM_001408502.1:c.1515T>A NP_001395431.1:p.Cys505Ter nonsense NM_001408503.1:c.1515T>A NP_001395432.1:p.Cys505Ter nonsense NM_001408504.1:c.1515T>A NP_001395433.1:p.Cys505Ter nonsense NM_001408505.1:c.1512T>A NP_001395434.1:p.Cys504Ter nonsense NM_001408506.1:c.1455T>A NP_001395435.1:p.Cys485Ter nonsense NM_001408507.1:c.1452T>A NP_001395436.1:p.Cys484Ter nonsense NM_001408508.1:c.1443T>A NP_001395437.1:p.Cys481Ter nonsense NM_001408509.1:c.1440T>A NP_001395438.1:p.Cys480Ter nonsense NM_001408510.1:c.1401T>A NP_001395439.1:p.Cys467Ter nonsense NM_001408511.1:c.1398T>A NP_001395440.1:p.Cys466Ter nonsense NM_001408512.1:c.1278T>A NP_001395441.1:p.Cys426Ter nonsense NM_001408513.1:c.1251T>A NP_001395442.1:p.Cys417Ter nonsense NM_001408514.1:c.855T>A NP_001395443.1:p.Cys285Ter nonsense NM_007297.4:c.4950T>A NP_009228.2:p.Cys1650Ter nonsense NM_007298.4:c.1779T>A NP_009229.2:p.Cys593Ter nonsense NM_007299.4:c.1779T>A NP_009230.2:p.Cys593Ter nonsense NM_007300.4:c.5154T>A NP_009231.2:p.Cys1718Ter nonsense NM_007304.2:c.1779T>A NP_009235.2:p.Cys593Ter nonsense NR_027676.2:n.5268T>A non-coding transcript variant NC_000017.11:g.43063935A>T NC_000017.10:g.41215952A>T NG_005905.2:g.154049T>A LRG_292:g.154049T>A LRG_292t1:c.5091T>A LRG_292p1:p.Cys1697Ter - Protein change
- C1650*, C593*, C1697*, C1718*, C1401*, C1570*, C1584*, C1607*, C1628*, C1630*, C1654*, C1671*, C1693*, C1694*, C467*, C480*, C506*, C512*, C555*, C591*, C592*, C1543*, C1568*, C1608*, C1656*, C1669*, C1670*, C1678*, C1692*, C1696*, C1717*, C285*, C417*, C481*, C485*, C505*, C522*, C524*, C527*, C545*, C547*, C549*, C553*, C568*, C594*, C616*, C829*, C1569*, C1609*, C1625*, C1626*, C1649*, C1677*, C426*, C484*, C504*, C523*, C546*, C552*, C567*, C569*, C590*, C828*, C1400*, C1528*, C1585*, C1586*, C1627*, C1648*, C1653*, C1655*, C1695*, C1719*, C466*, C514*, C526*, C551*, C554*, C615*
- Other names
- -
- Canonical SPDI
- NC_000017.11:43063934:A:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
functionally_abnormal; Sequence Ontology [ SO:0002218]The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5091T>A, a NONSENSE variant, produced a function score of -2.09, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. [submitted by Brotman Baty Institute, University of Washington]
-
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.
- -
- Links
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 |
13044 | 14850 | |
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. |
|---|---|---|---|---|
| not provided (1) |
no classification provided
|
- | RCV001076367.3 |
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. |
|
|---|---|---|---|---|---|
|
not provided
(-)
|
no classification provided
Method: in vitro
|
Breast-ovarian cancer, familial 1
Affected status: not applicable
Allele origin:
not applicable
|
Brotman Baty Institute, University of Washington
Accession: SCV001242102.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
LOSS_OF_FUNCTION:-2.0906585713085
|
Germline Functional Evidence
| Functional
Help
The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
Help
A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
Help
A brief description of the result of this method for 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 functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|---|---|---|---|---|
|
functionally_abnormal
|
Method citation(s):
|
|
Brotman Baty Institute, University of Washington
Accession: SCV001242102.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5091T>A, a NONSENSE variant, produced a function score of -2.09, corresponding to a functional classification of LOSS_OF_FUNCTION. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5091T>A, a NONSENSE variant, produced a function score of -2.09, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. (less)
|
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
| https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
Text-mined citations for rs1597820426 ...
HelpRecord last updated Oct 08, 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.