Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4503C>A (p.Cys1501Ter)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Oct 2016 by
Evidence-based…
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.4503C>A (p.Cys1501Ter)
Variation ID: 266478 Accession: VCV000266478.12
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43074503 (GRCh38) [ NCBI UCSC ] 17: 41226520 (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 Oct 22, 2016 Aug 25, 2024 Oct 18, 2016 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4503C>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Cys1501Ter nonsense NM_001407571.1:c.4290C>A NP_001394500.1:p.Cys1430Ter nonsense NM_001407581.1:c.4569C>A NP_001394510.1:p.Cys1523Ter nonsense NM_001407582.1:c.4569C>A NP_001394511.1:p.Cys1523Ter nonsense NM_001407583.1:c.4566C>A NP_001394512.1:p.Cys1522Ter nonsense NM_001407585.1:c.4566C>A NP_001394514.1:p.Cys1522Ter nonsense NM_001407587.1:c.4566C>A NP_001394516.1:p.Cys1522Ter nonsense NM_001407590.1:c.4563C>A NP_001394519.1:p.Cys1521Ter nonsense NM_001407591.1:c.4563C>A NP_001394520.1:p.Cys1521Ter nonsense NM_001407593.1:c.4503C>A NP_001394522.1:p.Cys1501Ter nonsense NM_001407594.1:c.4503C>A NP_001394523.1:p.Cys1501Ter nonsense NM_001407596.1:c.4503C>A NP_001394525.1:p.Cys1501Ter nonsense NM_001407597.1:c.4503C>A NP_001394526.1:p.Cys1501Ter nonsense NM_001407598.1:c.4503C>A NP_001394527.1:p.Cys1501Ter nonsense NM_001407602.1:c.4503C>A NP_001394531.1:p.Cys1501Ter nonsense NM_001407603.1:c.4503C>A NP_001394532.1:p.Cys1501Ter nonsense NM_001407605.1:c.4503C>A NP_001394534.1:p.Cys1501Ter nonsense NM_001407610.1:c.4500C>A NP_001394539.1:p.Cys1500Ter nonsense NM_001407611.1:c.4500C>A NP_001394540.1:p.Cys1500Ter nonsense NM_001407612.1:c.4500C>A NP_001394541.1:p.Cys1500Ter nonsense NM_001407613.1:c.4500C>A NP_001394542.1:p.Cys1500Ter nonsense NM_001407614.1:c.4500C>A NP_001394543.1:p.Cys1500Ter nonsense NM_001407615.1:c.4500C>A NP_001394544.1:p.Cys1500Ter nonsense NM_001407616.1:c.4500C>A NP_001394545.1:p.Cys1500Ter nonsense NM_001407617.1:c.4500C>A NP_001394546.1:p.Cys1500Ter nonsense NM_001407618.1:c.4500C>A NP_001394547.1:p.Cys1500Ter nonsense NM_001407619.1:c.4500C>A NP_001394548.1:p.Cys1500Ter nonsense NM_001407620.1:c.4500C>A NP_001394549.1:p.Cys1500Ter nonsense NM_001407621.1:c.4500C>A NP_001394550.1:p.Cys1500Ter nonsense NM_001407622.1:c.4500C>A NP_001394551.1:p.Cys1500Ter nonsense NM_001407623.1:c.4500C>A NP_001394552.1:p.Cys1500Ter nonsense NM_001407624.1:c.4500C>A NP_001394553.1:p.Cys1500Ter nonsense NM_001407625.1:c.4500C>A NP_001394554.1:p.Cys1500Ter nonsense NM_001407626.1:c.4500C>A NP_001394555.1:p.Cys1500Ter nonsense NM_001407627.1:c.4497C>A NP_001394556.1:p.Cys1499Ter nonsense NM_001407628.1:c.4497C>A NP_001394557.1:p.Cys1499Ter nonsense NM_001407629.1:c.4497C>A NP_001394558.1:p.Cys1499Ter nonsense NM_001407630.1:c.4497C>A NP_001394559.1:p.Cys1499Ter nonsense NM_001407631.1:c.4497C>A NP_001394560.1:p.Cys1499Ter nonsense NM_001407632.1:c.4497C>A NP_001394561.1:p.Cys1499Ter nonsense NM_001407633.1:c.4497C>A NP_001394562.1:p.Cys1499Ter nonsense NM_001407634.1:c.4497C>A NP_001394563.1:p.Cys1499Ter nonsense NM_001407635.1:c.4497C>A NP_001394564.1:p.Cys1499Ter nonsense NM_001407636.1:c.4497C>A NP_001394565.1:p.Cys1499Ter nonsense NM_001407637.1:c.4497C>A NP_001394566.1:p.Cys1499Ter nonsense NM_001407638.1:c.4497C>A NP_001394567.1:p.Cys1499Ter nonsense NM_001407639.1:c.4497C>A NP_001394568.1:p.Cys1499Ter nonsense NM_001407640.1:c.4497C>A NP_001394569.1:p.Cys1499Ter nonsense NM_001407641.1:c.4497C>A NP_001394570.1:p.Cys1499Ter nonsense NM_001407642.1:c.4497C>A NP_001394571.1:p.Cys1499Ter nonsense NM_001407644.1:c.4494C>A NP_001394573.1:p.Cys1498Ter nonsense NM_001407645.1:c.4494C>A NP_001394574.1:p.Cys1498Ter nonsense NM_001407646.1:c.4491C>A NP_001394575.1:p.Cys1497Ter nonsense NM_001407647.1:c.4488C>A NP_001394576.1:p.Cys1496Ter nonsense NM_001407648.1:c.4446C>A NP_001394577.1:p.Cys1482Ter nonsense NM_001407649.1:c.4443C>A NP_001394578.1:p.Cys1481Ter nonsense NM_001407652.1:c.4503C>A NP_001394581.1:p.Cys1501Ter nonsense NM_001407653.1:c.4425C>A NP_001394582.1:p.Cys1475Ter nonsense NM_001407654.1:c.4425C>A NP_001394583.1:p.Cys1475Ter nonsense NM_001407655.1:c.4425C>A NP_001394584.1:p.Cys1475Ter nonsense NM_001407656.1:c.4422C>A NP_001394585.1:p.Cys1474Ter nonsense NM_001407657.1:c.4422C>A NP_001394586.1:p.Cys1474Ter nonsense NM_001407658.1:c.4422C>A NP_001394587.1:p.Cys1474Ter nonsense NM_001407659.1:c.4419C>A NP_001394588.1:p.Cys1473Ter nonsense NM_001407660.1:c.4419C>A NP_001394589.1:p.Cys1473Ter nonsense NM_001407661.1:c.4419C>A NP_001394590.1:p.Cys1473Ter nonsense NM_001407662.1:c.4419C>A NP_001394591.1:p.Cys1473Ter nonsense NM_001407663.1:c.4419C>A NP_001394592.1:p.Cys1473Ter nonsense NM_001407664.1:c.4380C>A NP_001394593.1:p.Cys1460Ter nonsense NM_001407665.1:c.4380C>A NP_001394594.1:p.Cys1460Ter nonsense NM_001407666.1:c.4380C>A NP_001394595.1:p.Cys1460Ter nonsense NM_001407667.1:c.4380C>A NP_001394596.1:p.Cys1460Ter nonsense NM_001407668.1:c.4380C>A NP_001394597.1:p.Cys1460Ter nonsense NM_001407669.1:c.4380C>A NP_001394598.1:p.Cys1460Ter nonsense NM_001407670.1:c.4377C>A NP_001394599.1:p.Cys1459Ter nonsense NM_001407671.1:c.4377C>A NP_001394600.1:p.Cys1459Ter nonsense NM_001407672.1:c.4377C>A NP_001394601.1:p.Cys1459Ter nonsense NM_001407673.1:c.4377C>A NP_001394602.1:p.Cys1459Ter nonsense NM_001407674.1:c.4377C>A NP_001394603.1:p.Cys1459Ter nonsense NM_001407675.1:c.4377C>A NP_001394604.1:p.Cys1459Ter nonsense NM_001407676.1:c.4377C>A NP_001394605.1:p.Cys1459Ter nonsense NM_001407677.1:c.4377C>A NP_001394606.1:p.Cys1459Ter nonsense NM_001407678.1:c.4377C>A NP_001394607.1:p.Cys1459Ter nonsense NM_001407679.1:c.4377C>A NP_001394608.1:p.Cys1459Ter nonsense NM_001407680.1:c.4377C>A NP_001394609.1:p.Cys1459Ter nonsense NM_001407681.1:c.4374C>A NP_001394610.1:p.Cys1458Ter nonsense NM_001407682.1:c.4374C>A NP_001394611.1:p.Cys1458Ter nonsense NM_001407683.1:c.4374C>A NP_001394612.1:p.Cys1458Ter nonsense NM_001407684.1:c.4503C>A NP_001394613.1:p.Cys1501Ter nonsense NM_001407685.1:c.4374C>A NP_001394614.1:p.Cys1458Ter nonsense NM_001407686.1:c.4374C>A NP_001394615.1:p.Cys1458Ter nonsense NM_001407687.1:c.4374C>A NP_001394616.1:p.Cys1458Ter nonsense NM_001407688.1:c.4374C>A NP_001394617.1:p.Cys1458Ter nonsense NM_001407689.1:c.4374C>A NP_001394618.1:p.Cys1458Ter nonsense NM_001407690.1:c.4371C>A NP_001394619.1:p.Cys1457Ter nonsense NM_001407691.1:c.4371C>A NP_001394620.1:p.Cys1457Ter nonsense NM_001407692.1:c.4362C>A NP_001394621.1:p.Cys1454Ter nonsense NM_001407694.1:c.4362C>A NP_001394623.1:p.Cys1454Ter nonsense NM_001407695.1:c.4362C>A NP_001394624.1:p.Cys1454Ter nonsense NM_001407696.1:c.4362C>A NP_001394625.1:p.Cys1454Ter nonsense NM_001407697.1:c.4362C>A NP_001394626.1:p.Cys1454Ter nonsense NM_001407698.1:c.4362C>A NP_001394627.1:p.Cys1454Ter nonsense NM_001407724.1:c.4362C>A NP_001394653.1:p.Cys1454Ter nonsense NM_001407725.1:c.4362C>A NP_001394654.1:p.Cys1454Ter nonsense NM_001407726.1:c.4362C>A NP_001394655.1:p.Cys1454Ter nonsense NM_001407727.1:c.4362C>A NP_001394656.1:p.Cys1454Ter nonsense NM_001407728.1:c.4362C>A NP_001394657.1:p.Cys1454Ter nonsense NM_001407729.1:c.4362C>A NP_001394658.1:p.Cys1454Ter nonsense NM_001407730.1:c.4362C>A NP_001394659.1:p.Cys1454Ter nonsense NM_001407731.1:c.4362C>A NP_001394660.1:p.Cys1454Ter nonsense NM_001407732.1:c.4359C>A NP_001394661.1:p.Cys1453Ter nonsense NM_001407733.1:c.4359C>A NP_001394662.1:p.Cys1453Ter nonsense NM_001407734.1:c.4359C>A NP_001394663.1:p.Cys1453Ter nonsense NM_001407735.1:c.4359C>A NP_001394664.1:p.Cys1453Ter nonsense NM_001407736.1:c.4359C>A NP_001394665.1:p.Cys1453Ter nonsense NM_001407737.1:c.4359C>A NP_001394666.1:p.Cys1453Ter nonsense NM_001407738.1:c.4359C>A NP_001394667.1:p.Cys1453Ter nonsense NM_001407739.1:c.4359C>A NP_001394668.1:p.Cys1453Ter nonsense NM_001407740.1:c.4359C>A NP_001394669.1:p.Cys1453Ter nonsense NM_001407741.1:c.4359C>A NP_001394670.1:p.Cys1453Ter nonsense NM_001407742.1:c.4359C>A NP_001394671.1:p.Cys1453Ter nonsense NM_001407743.1:c.4359C>A NP_001394672.1:p.Cys1453Ter nonsense NM_001407744.1:c.4359C>A NP_001394673.1:p.Cys1453Ter nonsense NM_001407745.1:c.4359C>A NP_001394674.1:p.Cys1453Ter nonsense NM_001407746.1:c.4359C>A NP_001394675.1:p.Cys1453Ter nonsense NM_001407747.1:c.4359C>A NP_001394676.1:p.Cys1453Ter nonsense NM_001407748.1:c.4359C>A NP_001394677.1:p.Cys1453Ter nonsense NM_001407749.1:c.4359C>A NP_001394678.1:p.Cys1453Ter nonsense NM_001407750.1:c.4359C>A NP_001394679.1:p.Cys1453Ter nonsense NM_001407751.1:c.4359C>A NP_001394680.1:p.Cys1453Ter nonsense NM_001407752.1:c.4359C>A NP_001394681.1:p.Cys1453Ter nonsense NM_001407838.1:c.4356C>A NP_001394767.1:p.Cys1452Ter nonsense NM_001407839.1:c.4356C>A NP_001394768.1:p.Cys1452Ter nonsense NM_001407841.1:c.4356C>A NP_001394770.1:p.Cys1452Ter nonsense NM_001407842.1:c.4356C>A NP_001394771.1:p.Cys1452Ter nonsense NM_001407843.1:c.4356C>A NP_001394772.1:p.Cys1452Ter nonsense NM_001407844.1:c.4356C>A NP_001394773.1:p.Cys1452Ter nonsense NM_001407845.1:c.4356C>A NP_001394774.1:p.Cys1452Ter nonsense NM_001407846.1:c.4356C>A NP_001394775.1:p.Cys1452Ter nonsense NM_001407847.1:c.4356C>A NP_001394776.1:p.Cys1452Ter nonsense NM_001407848.1:c.4356C>A NP_001394777.1:p.Cys1452Ter nonsense NM_001407849.1:c.4356C>A NP_001394778.1:p.Cys1452Ter nonsense NM_001407850.1:c.4356C>A NP_001394779.1:p.Cys1452Ter nonsense NM_001407851.1:c.4356C>A NP_001394780.1:p.Cys1452Ter nonsense NM_001407852.1:c.4356C>A NP_001394781.1:p.Cys1452Ter nonsense NM_001407853.1:c.4356C>A NP_001394782.1:p.Cys1452Ter nonsense NM_001407854.1:c.4503C>A NP_001394783.1:p.Cys1501Ter nonsense NM_001407858.1:c.4500C>A NP_001394787.1:p.Cys1500Ter nonsense NM_001407859.1:c.4500C>A NP_001394788.1:p.Cys1500Ter nonsense NM_001407860.1:c.4500C>A NP_001394789.1:p.Cys1500Ter nonsense NM_001407861.1:c.4497C>A NP_001394790.1:p.Cys1499Ter nonsense NM_001407862.1:c.4302C>A NP_001394791.1:p.Cys1434Ter nonsense NM_001407863.1:c.4377C>A NP_001394792.1:p.Cys1459Ter nonsense NM_001407874.1:c.4296C>A NP_001394803.1:p.Cys1432Ter nonsense NM_001407875.1:c.4296C>A NP_001394804.1:p.Cys1432Ter nonsense NM_001407879.1:c.4293C>A NP_001394808.1:p.Cys1431Ter nonsense NM_001407881.1:c.4293C>A NP_001394810.1:p.Cys1431Ter nonsense NM_001407882.1:c.4293C>A NP_001394811.1:p.Cys1431Ter nonsense NM_001407884.1:c.4293C>A NP_001394813.1:p.Cys1431Ter nonsense NM_001407885.1:c.4293C>A NP_001394814.1:p.Cys1431Ter nonsense NM_001407886.1:c.4293C>A NP_001394815.1:p.Cys1431Ter nonsense NM_001407887.1:c.4293C>A NP_001394816.1:p.Cys1431Ter nonsense NM_001407889.1:c.4293C>A NP_001394818.1:p.Cys1431Ter nonsense NM_001407894.1:c.4290C>A NP_001394823.1:p.Cys1430Ter nonsense NM_001407895.1:c.4290C>A NP_001394824.1:p.Cys1430Ter nonsense NM_001407896.1:c.4290C>A NP_001394825.1:p.Cys1430Ter nonsense NM_001407897.1:c.4290C>A NP_001394826.1:p.Cys1430Ter nonsense NM_001407898.1:c.4290C>A NP_001394827.1:p.Cys1430Ter nonsense NM_001407899.1:c.4290C>A NP_001394828.1:p.Cys1430Ter nonsense NM_001407900.1:c.4290C>A NP_001394829.1:p.Cys1430Ter nonsense NM_001407902.1:c.4290C>A NP_001394831.1:p.Cys1430Ter nonsense NM_001407904.1:c.4290C>A NP_001394833.1:p.Cys1430Ter nonsense NM_001407906.1:c.4290C>A NP_001394835.1:p.Cys1430Ter nonsense NM_001407907.1:c.4290C>A NP_001394836.1:p.Cys1430Ter nonsense NM_001407908.1:c.4290C>A NP_001394837.1:p.Cys1430Ter nonsense NM_001407909.1:c.4290C>A NP_001394838.1:p.Cys1430Ter nonsense NM_001407910.1:c.4290C>A NP_001394839.1:p.Cys1430Ter nonsense NM_001407915.1:c.4287C>A NP_001394844.1:p.Cys1429Ter nonsense NM_001407916.1:c.4287C>A NP_001394845.1:p.Cys1429Ter nonsense NM_001407917.1:c.4287C>A NP_001394846.1:p.Cys1429Ter nonsense NM_001407918.1:c.4287C>A NP_001394847.1:p.Cys1429Ter nonsense NM_001407919.1:c.4380C>A NP_001394848.1:p.Cys1460Ter nonsense NM_001407920.1:c.4239C>A NP_001394849.1:p.Cys1413Ter nonsense NM_001407921.1:c.4239C>A NP_001394850.1:p.Cys1413Ter nonsense NM_001407922.1:c.4239C>A NP_001394851.1:p.Cys1413Ter nonsense NM_001407923.1:c.4239C>A NP_001394852.1:p.Cys1413Ter nonsense NM_001407924.1:c.4239C>A NP_001394853.1:p.Cys1413Ter nonsense NM_001407925.1:c.4239C>A NP_001394854.1:p.Cys1413Ter nonsense NM_001407926.1:c.4239C>A NP_001394855.1:p.Cys1413Ter nonsense NM_001407927.1:c.4236C>A NP_001394856.1:p.Cys1412Ter nonsense NM_001407928.1:c.4236C>A NP_001394857.1:p.Cys1412Ter nonsense NM_001407929.1:c.4236C>A NP_001394858.1:p.Cys1412Ter nonsense NM_001407930.1:c.4236C>A NP_001394859.1:p.Cys1412Ter nonsense NM_001407931.1:c.4236C>A NP_001394860.1:p.Cys1412Ter nonsense NM_001407932.1:c.4236C>A NP_001394861.1:p.Cys1412Ter nonsense NM_001407933.1:c.4236C>A NP_001394862.1:p.Cys1412Ter nonsense NM_001407934.1:c.4233C>A NP_001394863.1:p.Cys1411Ter nonsense NM_001407935.1:c.4233C>A NP_001394864.1:p.Cys1411Ter nonsense NM_001407936.1:c.4233C>A NP_001394865.1:p.Cys1411Ter nonsense NM_001407937.1:c.4380C>A NP_001394866.1:p.Cys1460Ter nonsense NM_001407938.1:c.4380C>A NP_001394867.1:p.Cys1460Ter nonsense NM_001407939.1:c.4377C>A NP_001394868.1:p.Cys1459Ter nonsense NM_001407940.1:c.4377C>A NP_001394869.1:p.Cys1459Ter nonsense NM_001407941.1:c.4374C>A NP_001394870.1:p.Cys1458Ter nonsense NM_001407942.1:c.4362C>A NP_001394871.1:p.Cys1454Ter nonsense NM_001407943.1:c.4359C>A NP_001394872.1:p.Cys1453Ter nonsense NM_001407944.1:c.4359C>A NP_001394873.1:p.Cys1453Ter nonsense NM_001407945.1:c.4359C>A NP_001394874.1:p.Cys1453Ter nonsense NM_001407946.1:c.4170C>A NP_001394875.1:p.Cys1390Ter nonsense NM_001407947.1:c.4170C>A NP_001394876.1:p.Cys1390Ter nonsense NM_001407948.1:c.4170C>A NP_001394877.1:p.Cys1390Ter nonsense NM_001407949.1:c.4170C>A NP_001394878.1:p.Cys1390Ter nonsense NM_001407950.1:c.4167C>A NP_001394879.1:p.Cys1389Ter nonsense NM_001407951.1:c.4167C>A NP_001394880.1:p.Cys1389Ter nonsense NM_001407952.1:c.4167C>A NP_001394881.1:p.Cys1389Ter nonsense NM_001407953.1:c.4167C>A NP_001394882.1:p.Cys1389Ter nonsense NM_001407954.1:c.4167C>A NP_001394883.1:p.Cys1389Ter nonsense NM_001407955.1:c.4167C>A NP_001394884.1:p.Cys1389Ter nonsense NM_001407956.1:c.4164C>A NP_001394885.1:p.Cys1388Ter nonsense NM_001407957.1:c.4164C>A NP_001394886.1:p.Cys1388Ter nonsense NM_001407958.1:c.4164C>A NP_001394887.1:p.Cys1388Ter nonsense NM_001407959.1:c.4122C>A NP_001394888.1:p.Cys1374Ter nonsense NM_001407960.1:c.4119C>A NP_001394889.1:p.Cys1373Ter nonsense NM_001407962.1:c.4119C>A NP_001394891.1:p.Cys1373Ter nonsense NM_001407963.1:c.4116C>A NP_001394892.1:p.Cys1372Ter nonsense NM_001407965.1:c.3996C>A NP_001394894.1:p.Cys1332Ter nonsense NM_001407966.1:c.3615C>A NP_001394895.1:p.Cys1205Ter nonsense NM_001407967.1:c.3612C>A NP_001394896.1:p.Cys1204Ter nonsense NM_001407968.1:c.1899C>A NP_001394897.1:p.Cys633Ter nonsense NM_001407969.1:c.1896C>A NP_001394898.1:p.Cys632Ter nonsense NM_001407970.1:c.1260C>A NP_001394899.1:p.Cys420Ter nonsense NM_001407971.1:c.1260C>A NP_001394900.1:p.Cys420Ter nonsense NM_001407972.1:c.1257C>A NP_001394901.1:p.Cys419Ter nonsense NM_001407973.1:c.1194C>A NP_001394902.1:p.Cys398Ter nonsense NM_001407974.1:c.1194C>A NP_001394903.1:p.Cys398Ter nonsense NM_001407975.1:c.1194C>A NP_001394904.1:p.Cys398Ter nonsense NM_001407976.1:c.1194C>A NP_001394905.1:p.Cys398Ter nonsense NM_001407977.1:c.1194C>A NP_001394906.1:p.Cys398Ter nonsense NM_001407978.1:c.1194C>A NP_001394907.1:p.Cys398Ter nonsense NM_001407979.1:c.1191C>A NP_001394908.1:p.Cys397Ter nonsense NM_001407980.1:c.1191C>A NP_001394909.1:p.Cys397Ter nonsense NM_001407981.1:c.1191C>A NP_001394910.1:p.Cys397Ter nonsense NM_001407982.1:c.1191C>A NP_001394911.1:p.Cys397Ter nonsense NM_001407983.1:c.1191C>A NP_001394912.1:p.Cys397Ter nonsense NM_001407984.1:c.1191C>A NP_001394913.1:p.Cys397Ter nonsense NM_001407985.1:c.1191C>A NP_001394914.1:p.Cys397Ter nonsense NM_001407986.1:c.1191C>A NP_001394915.1:p.Cys397Ter nonsense NM_001407990.1:c.1191C>A NP_001394919.1:p.Cys397Ter nonsense NM_001407991.1:c.1191C>A NP_001394920.1:p.Cys397Ter nonsense NM_001407992.1:c.1191C>A NP_001394921.1:p.Cys397Ter nonsense NM_001407993.1:c.1191C>A NP_001394922.1:p.Cys397Ter nonsense NM_001408392.1:c.1188C>A NP_001395321.1:p.Cys396Ter nonsense NM_001408396.1:c.1188C>A NP_001395325.1:p.Cys396Ter nonsense NM_001408397.1:c.1188C>A NP_001395326.1:p.Cys396Ter nonsense NM_001408398.1:c.1188C>A NP_001395327.1:p.Cys396Ter nonsense NM_001408399.1:c.1188C>A NP_001395328.1:p.Cys396Ter nonsense NM_001408400.1:c.1188C>A NP_001395329.1:p.Cys396Ter nonsense NM_001408401.1:c.1188C>A NP_001395330.1:p.Cys396Ter nonsense NM_001408402.1:c.1188C>A NP_001395331.1:p.Cys396Ter nonsense NM_001408403.1:c.1188C>A NP_001395332.1:p.Cys396Ter nonsense NM_001408404.1:c.1188C>A NP_001395333.1:p.Cys396Ter nonsense NM_001408406.1:c.1185C>A NP_001395335.1:p.Cys395Ter nonsense NM_001408407.1:c.1185C>A NP_001395336.1:p.Cys395Ter nonsense NM_001408408.1:c.1185C>A NP_001395337.1:p.Cys395Ter nonsense NM_001408409.1:c.1182C>A NP_001395338.1:p.Cys394Ter nonsense NM_001408410.1:c.1119C>A NP_001395339.1:p.Cys373Ter nonsense NM_001408411.1:c.1116C>A NP_001395340.1:p.Cys372Ter nonsense NM_001408412.1:c.1113C>A NP_001395341.1:p.Cys371Ter nonsense NM_001408413.1:c.1113C>A NP_001395342.1:p.Cys371Ter nonsense NM_001408414.1:c.1113C>A NP_001395343.1:p.Cys371Ter nonsense NM_001408415.1:c.1113C>A NP_001395344.1:p.Cys371Ter nonsense NM_001408416.1:c.1113C>A NP_001395345.1:p.Cys371Ter nonsense NM_001408418.1:c.1077C>A NP_001395347.1:p.Cys359Ter nonsense NM_001408419.1:c.1077C>A NP_001395348.1:p.Cys359Ter nonsense NM_001408420.1:c.1077C>A NP_001395349.1:p.Cys359Ter nonsense NM_001408421.1:c.1074C>A NP_001395350.1:p.Cys358Ter nonsense NM_001408422.1:c.1074C>A NP_001395351.1:p.Cys358Ter nonsense NM_001408423.1:c.1074C>A NP_001395352.1:p.Cys358Ter nonsense NM_001408424.1:c.1074C>A NP_001395353.1:p.Cys358Ter nonsense NM_001408425.1:c.1071C>A NP_001395354.1:p.Cys357Ter nonsense NM_001408426.1:c.1071C>A NP_001395355.1:p.Cys357Ter nonsense NM_001408427.1:c.1071C>A NP_001395356.1:p.Cys357Ter nonsense NM_001408428.1:c.1071C>A NP_001395357.1:p.Cys357Ter nonsense NM_001408429.1:c.1071C>A NP_001395358.1:p.Cys357Ter nonsense NM_001408430.1:c.1071C>A NP_001395359.1:p.Cys357Ter nonsense NM_001408431.1:c.1071C>A NP_001395360.1:p.Cys357Ter nonsense NM_001408432.1:c.1068C>A NP_001395361.1:p.Cys356Ter nonsense NM_001408433.1:c.1068C>A NP_001395362.1:p.Cys356Ter nonsense NM_001408434.1:c.1068C>A NP_001395363.1:p.Cys356Ter nonsense NM_001408435.1:c.1068C>A NP_001395364.1:p.Cys356Ter nonsense NM_001408436.1:c.1068C>A NP_001395365.1:p.Cys356Ter nonsense NM_001408437.1:c.1068C>A NP_001395366.1:p.Cys356Ter nonsense NM_001408438.1:c.1068C>A NP_001395367.1:p.Cys356Ter nonsense NM_001408439.1:c.1068C>A NP_001395368.1:p.Cys356Ter nonsense NM_001408440.1:c.1068C>A NP_001395369.1:p.Cys356Ter nonsense NM_001408441.1:c.1068C>A NP_001395370.1:p.Cys356Ter nonsense NM_001408442.1:c.1068C>A NP_001395371.1:p.Cys356Ter nonsense NM_001408443.1:c.1068C>A NP_001395372.1:p.Cys356Ter nonsense NM_001408444.1:c.1068C>A NP_001395373.1:p.Cys356Ter nonsense NM_001408445.1:c.1065C>A NP_001395374.1:p.Cys355Ter nonsense NM_001408446.1:c.1065C>A NP_001395375.1:p.Cys355Ter nonsense NM_001408447.1:c.1065C>A NP_001395376.1:p.Cys355Ter nonsense NM_001408448.1:c.1065C>A NP_001395377.1:p.Cys355Ter nonsense NM_001408450.1:c.1065C>A NP_001395379.1:p.Cys355Ter nonsense NM_001408451.1:c.1059C>A NP_001395380.1:p.Cys353Ter nonsense NM_001408452.1:c.1053C>A NP_001395381.1:p.Cys351Ter nonsense NM_001408453.1:c.1053C>A NP_001395382.1:p.Cys351Ter nonsense NM_001408454.1:c.1053C>A NP_001395383.1:p.Cys351Ter nonsense NM_001408455.1:c.1053C>A NP_001395384.1:p.Cys351Ter nonsense NM_001408456.1:c.1053C>A NP_001395385.1:p.Cys351Ter nonsense NM_001408457.1:c.1053C>A NP_001395386.1:p.Cys351Ter nonsense NM_001408458.1:c.1050C>A NP_001395387.1:p.Cys350Ter nonsense NM_001408459.1:c.1050C>A NP_001395388.1:p.Cys350Ter nonsense NM_001408460.1:c.1050C>A NP_001395389.1:p.Cys350Ter nonsense NM_001408461.1:c.1050C>A NP_001395390.1:p.Cys350Ter nonsense NM_001408462.1:c.1050C>A NP_001395391.1:p.Cys350Ter nonsense NM_001408463.1:c.1050C>A NP_001395392.1:p.Cys350Ter nonsense NM_001408464.1:c.1050C>A NP_001395393.1:p.Cys350Ter nonsense NM_001408465.1:c.1050C>A NP_001395394.1:p.Cys350Ter nonsense NM_001408466.1:c.1050C>A NP_001395395.1:p.Cys350Ter nonsense NM_001408467.1:c.1050C>A NP_001395396.1:p.Cys350Ter nonsense NM_001408468.1:c.1047C>A NP_001395397.1:p.Cys349Ter nonsense NM_001408469.1:c.1047C>A NP_001395398.1:p.Cys349Ter nonsense NM_001408470.1:c.1047C>A NP_001395399.1:p.Cys349Ter nonsense NM_001408472.1:c.1191C>A NP_001395401.1:p.Cys397Ter nonsense NM_001408473.1:c.1188C>A NP_001395402.1:p.Cys396Ter nonsense NM_001408474.1:c.993C>A NP_001395403.1:p.Cys331Ter nonsense NM_001408475.1:c.990C>A NP_001395404.1:p.Cys330Ter nonsense NM_001408476.1:c.990C>A NP_001395405.1:p.Cys330Ter nonsense NM_001408478.1:c.984C>A NP_001395407.1:p.Cys328Ter nonsense NM_001408479.1:c.984C>A NP_001395408.1:p.Cys328Ter nonsense NM_001408480.1:c.984C>A NP_001395409.1:p.Cys328Ter nonsense NM_001408481.1:c.981C>A NP_001395410.1:p.Cys327Ter nonsense NM_001408482.1:c.981C>A NP_001395411.1:p.Cys327Ter nonsense NM_001408483.1:c.981C>A NP_001395412.1:p.Cys327Ter nonsense NM_001408484.1:c.981C>A NP_001395413.1:p.Cys327Ter nonsense NM_001408485.1:c.981C>A NP_001395414.1:p.Cys327Ter nonsense NM_001408489.1:c.981C>A NP_001395418.1:p.Cys327Ter nonsense NM_001408490.1:c.981C>A NP_001395419.1:p.Cys327Ter nonsense NM_001408491.1:c.981C>A NP_001395420.1:p.Cys327Ter nonsense NM_001408492.1:c.978C>A NP_001395421.1:p.Cys326Ter nonsense NM_001408493.1:c.978C>A NP_001395422.1:p.Cys326Ter nonsense NM_001408494.1:c.954C>A NP_001395423.1:p.Cys318Ter nonsense NM_001408495.1:c.948C>A NP_001395424.1:p.Cys316Ter nonsense NM_001408496.1:c.930C>A NP_001395425.1:p.Cys310Ter nonsense NM_001408497.1:c.930C>A NP_001395426.1:p.Cys310Ter nonsense NM_001408498.1:c.930C>A NP_001395427.1:p.Cys310Ter nonsense NM_001408499.1:c.930C>A NP_001395428.1:p.Cys310Ter nonsense NM_001408500.1:c.930C>A NP_001395429.1:p.Cys310Ter nonsense NM_001408501.1:c.930C>A NP_001395430.1:p.Cys310Ter nonsense NM_001408502.1:c.927C>A NP_001395431.1:p.Cys309Ter nonsense NM_001408503.1:c.927C>A NP_001395432.1:p.Cys309Ter nonsense NM_001408504.1:c.927C>A NP_001395433.1:p.Cys309Ter nonsense NM_001408505.1:c.924C>A NP_001395434.1:p.Cys308Ter nonsense NM_001408506.1:c.867C>A NP_001395435.1:p.Cys289Ter nonsense NM_001408507.1:c.864C>A NP_001395436.1:p.Cys288Ter nonsense NM_001408508.1:c.855C>A NP_001395437.1:p.Cys285Ter nonsense NM_001408509.1:c.852C>A NP_001395438.1:p.Cys284Ter nonsense NM_001408510.1:c.813C>A NP_001395439.1:p.Cys271Ter nonsense NM_001408511.1:c.810C>A NP_001395440.1:p.Cys270Ter nonsense NM_001408512.1:c.690C>A NP_001395441.1:p.Cys230Ter nonsense NM_007297.4:c.4362C>A NP_009228.2:p.Cys1454Ter nonsense NM_007298.4:c.1191C>A NP_009229.2:p.Cys397Ter nonsense NM_007299.4:c.1191C>A NP_009230.2:p.Cys397Ter nonsense NM_007300.4:c.4566C>A NP_009231.2:p.Cys1522Ter nonsense NM_007304.2:c.1191C>A NP_009235.2:p.Cys397Ter nonsense NR_027676.2:n.4680C>A non-coding transcript variant NC_000017.11:g.43074503G>T NC_000017.10:g.41226520G>T NG_005905.2:g.143481C>A LRG_292:g.143481C>A LRG_292t1:c.4503C>A LRG_292p1:p.Cys1501Ter - Protein change
- C1501*, C397*, C1522*, C1454*, C270*, C288*, C326*, C327*, C349*, C355*, C356*, C371*, C394*, C420*, C1388*, C1413*, C1429*, C1434*, C1452*, C1453*, C1460*, C1500*, C1521*, C1205*, C1372*, C1389*, C1411*, C1432*, C1459*, C1473*, C1474*, C1498*, C271*, C330*, C331*, C353*, C373*, C395*, C632*, C1332*, C1373*, C1390*, C1412*, C1430*, C1431*, C1457*, C1481*, C1499*, C284*, C310*, C316*, C318*, C358*, C359*, C372*, C419*, C1204*, C1374*, C1458*, C1475*, C1482*, C1496*, C1497*, C1523*, C230*, C285*, C289*, C308*, C309*, C328*, C350*, C351*, C357*, C396*, C398*, C633*
- Other names
-
4622C>A (C1501X)
- Canonical SPDI
- NC_000017.11:43074502:G:T
-
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.
- -
- 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 |
13041 | 14847 | |
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 (3) |
reviewed by expert panel
|
Oct 18, 2016 | RCV000256519.14 | |
| Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Aug 11, 2023 | RCV000472996.14 | |
| Pathogenic (1) |
criteria provided, single submitter
|
May 27, 2022 | RCV004696896.1 | |
| Pathogenic (1) |
no assertion criteria provided
|
Sep 12, 2021 | RCV001640594.9 |
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
(Oct 18, 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: SCV000323772.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
Pathogenic
(Apr 02, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Department of Molecular Diagnostics, Institute of Oncology Ljubljana
Accession: SCV001499711.1
First in ClinVar: Mar 07, 2021 Last updated: Mar 07, 2021 |
|
|
|
Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325989.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
|
|
Pathogenic
(Nov 12, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000549326.6
First in ClinVar: Apr 17, 2017 Last updated: Feb 20, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 266478). This premature translational stop signal … (more)
For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 266478). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 25948282). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys1501*) 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). (less)
|
|
|
Pathogenic
(Aug 11, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV004039085.1
First in ClinVar: Oct 07, 2023 Last updated: Oct 07, 2023 |
Comment:
Variant summary: BRCA1 c.4503C>A (p.Cys1501X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Variant summary: BRCA1 c.4503C>A (p.Cys1501X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251274 control chromosomes. c.4503C>A has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (eg. Klusa_2015). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
|
|
|
Pathogenic
(May 27, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics Laboratory, Skane University Hospital Lund
Accession: SCV005199714.1
First in ClinVar: Aug 25, 2024 Last updated: Aug 25, 2024 |
|
|
|
Pathogenic
(Sep 12, 2021)
|
no assertion criteria provided
Method: clinical testing
|
Ovarian carcinoma
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
|
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences
Accession: SCV001852770.1
First in ClinVar: Sep 19, 2021 Last updated: Sep 19, 2021 |
Sex: female
|
Comment:
Comment:
For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 266478). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 25948282). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys1501*) 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).
Comment:
Variant summary: BRCA1 c.4503C>A (p.Cys1501X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251274 control chromosomes. c.4503C>A has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (eg. Klusa_2015). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
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. |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Comment:
For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 266478). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 25948282). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys1501*) 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).
Comment:
Variant summary: BRCA1 c.4503C>A (p.Cys1501X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251274 control chromosomes. c.4503C>A has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (eg. Klusa_2015). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing. | Kluska A | BMC medical genomics | 2015 | PMID: 25948282 |
| 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 |
Text-mined citations for rs747539984 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Nov 03, 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.