This variant changes 1 nucleotide in exon 14 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. 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. Based on the available evidence, this variant is classified as Pathogenic.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4539C>A (p.Cys1513Ter)
Germline
Classification
Help
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.
(2)
Help
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.
Pathogenic
2
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.4539C>A (p.Cys1513Ter)
Variation ID: 924702 Accession: VCV000924702.7
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43074467 (GRCh38) [ NCBI UCSC ] 17: 41226484 (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 Jun 22, 2020 Feb 20, 2024 Aug 19, 2022 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4539C>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Cys1513Ter nonsense NM_001407571.1:c.4326C>A NP_001394500.1:p.Cys1442Ter nonsense NM_001407581.1:c.4605C>A NP_001394510.1:p.Cys1535Ter nonsense NM_001407582.1:c.4605C>A NP_001394511.1:p.Cys1535Ter nonsense NM_001407583.1:c.4602C>A NP_001394512.1:p.Cys1534Ter nonsense NM_001407585.1:c.4602C>A NP_001394514.1:p.Cys1534Ter nonsense NM_001407587.1:c.4602C>A NP_001394516.1:p.Cys1534Ter nonsense NM_001407590.1:c.4599C>A NP_001394519.1:p.Cys1533Ter nonsense NM_001407591.1:c.4599C>A NP_001394520.1:p.Cys1533Ter nonsense NM_001407593.1:c.4539C>A NP_001394522.1:p.Cys1513Ter nonsense NM_001407594.1:c.4539C>A NP_001394523.1:p.Cys1513Ter nonsense NM_001407596.1:c.4539C>A NP_001394525.1:p.Cys1513Ter nonsense NM_001407597.1:c.4539C>A NP_001394526.1:p.Cys1513Ter nonsense NM_001407598.1:c.4539C>A NP_001394527.1:p.Cys1513Ter nonsense NM_001407602.1:c.4539C>A NP_001394531.1:p.Cys1513Ter nonsense NM_001407603.1:c.4539C>A NP_001394532.1:p.Cys1513Ter nonsense NM_001407605.1:c.4539C>A NP_001394534.1:p.Cys1513Ter nonsense NM_001407610.1:c.4536C>A NP_001394539.1:p.Cys1512Ter nonsense NM_001407611.1:c.4536C>A NP_001394540.1:p.Cys1512Ter nonsense NM_001407612.1:c.4536C>A NP_001394541.1:p.Cys1512Ter nonsense NM_001407613.1:c.4536C>A NP_001394542.1:p.Cys1512Ter nonsense NM_001407614.1:c.4536C>A NP_001394543.1:p.Cys1512Ter nonsense NM_001407615.1:c.4536C>A NP_001394544.1:p.Cys1512Ter nonsense NM_001407616.1:c.4536C>A NP_001394545.1:p.Cys1512Ter nonsense NM_001407617.1:c.4536C>A NP_001394546.1:p.Cys1512Ter nonsense NM_001407618.1:c.4536C>A NP_001394547.1:p.Cys1512Ter nonsense NM_001407619.1:c.4536C>A NP_001394548.1:p.Cys1512Ter nonsense NM_001407620.1:c.4536C>A NP_001394549.1:p.Cys1512Ter nonsense NM_001407621.1:c.4536C>A NP_001394550.1:p.Cys1512Ter nonsense NM_001407622.1:c.4536C>A NP_001394551.1:p.Cys1512Ter nonsense NM_001407623.1:c.4536C>A NP_001394552.1:p.Cys1512Ter nonsense NM_001407624.1:c.4536C>A NP_001394553.1:p.Cys1512Ter nonsense NM_001407625.1:c.4536C>A NP_001394554.1:p.Cys1512Ter nonsense NM_001407626.1:c.4536C>A NP_001394555.1:p.Cys1512Ter nonsense NM_001407627.1:c.4533C>A NP_001394556.1:p.Cys1511Ter nonsense NM_001407628.1:c.4533C>A NP_001394557.1:p.Cys1511Ter nonsense NM_001407629.1:c.4533C>A NP_001394558.1:p.Cys1511Ter nonsense NM_001407630.1:c.4533C>A NP_001394559.1:p.Cys1511Ter nonsense NM_001407631.1:c.4533C>A NP_001394560.1:p.Cys1511Ter nonsense NM_001407632.1:c.4533C>A NP_001394561.1:p.Cys1511Ter nonsense NM_001407633.1:c.4533C>A NP_001394562.1:p.Cys1511Ter nonsense NM_001407634.1:c.4533C>A NP_001394563.1:p.Cys1511Ter nonsense NM_001407635.1:c.4533C>A NP_001394564.1:p.Cys1511Ter nonsense NM_001407636.1:c.4533C>A NP_001394565.1:p.Cys1511Ter nonsense NM_001407637.1:c.4533C>A NP_001394566.1:p.Cys1511Ter nonsense NM_001407638.1:c.4533C>A NP_001394567.1:p.Cys1511Ter nonsense NM_001407639.1:c.4533C>A NP_001394568.1:p.Cys1511Ter nonsense NM_001407640.1:c.4533C>A NP_001394569.1:p.Cys1511Ter nonsense NM_001407641.1:c.4533C>A NP_001394570.1:p.Cys1511Ter nonsense NM_001407642.1:c.4533C>A NP_001394571.1:p.Cys1511Ter nonsense NM_001407644.1:c.4530C>A NP_001394573.1:p.Cys1510Ter nonsense NM_001407645.1:c.4530C>A NP_001394574.1:p.Cys1510Ter nonsense NM_001407646.1:c.4527C>A NP_001394575.1:p.Cys1509Ter nonsense NM_001407647.1:c.4524C>A NP_001394576.1:p.Cys1508Ter nonsense NM_001407648.1:c.4482C>A NP_001394577.1:p.Cys1494Ter nonsense NM_001407649.1:c.4479C>A NP_001394578.1:p.Cys1493Ter nonsense NM_001407652.1:c.4539C>A NP_001394581.1:p.Cys1513Ter nonsense NM_001407653.1:c.4461C>A NP_001394582.1:p.Cys1487Ter nonsense NM_001407654.1:c.4461C>A NP_001394583.1:p.Cys1487Ter nonsense NM_001407655.1:c.4461C>A NP_001394584.1:p.Cys1487Ter nonsense NM_001407656.1:c.4458C>A NP_001394585.1:p.Cys1486Ter nonsense NM_001407657.1:c.4458C>A NP_001394586.1:p.Cys1486Ter nonsense NM_001407658.1:c.4458C>A NP_001394587.1:p.Cys1486Ter nonsense NM_001407659.1:c.4455C>A NP_001394588.1:p.Cys1485Ter nonsense NM_001407660.1:c.4455C>A NP_001394589.1:p.Cys1485Ter nonsense NM_001407661.1:c.4455C>A NP_001394590.1:p.Cys1485Ter nonsense NM_001407662.1:c.4455C>A NP_001394591.1:p.Cys1485Ter nonsense NM_001407663.1:c.4455C>A NP_001394592.1:p.Cys1485Ter nonsense NM_001407664.1:c.4416C>A NP_001394593.1:p.Cys1472Ter nonsense NM_001407665.1:c.4416C>A NP_001394594.1:p.Cys1472Ter nonsense NM_001407666.1:c.4416C>A NP_001394595.1:p.Cys1472Ter nonsense NM_001407667.1:c.4416C>A NP_001394596.1:p.Cys1472Ter nonsense NM_001407668.1:c.4416C>A NP_001394597.1:p.Cys1472Ter nonsense NM_001407669.1:c.4416C>A NP_001394598.1:p.Cys1472Ter nonsense NM_001407670.1:c.4413C>A NP_001394599.1:p.Cys1471Ter nonsense NM_001407671.1:c.4413C>A NP_001394600.1:p.Cys1471Ter nonsense NM_001407672.1:c.4413C>A NP_001394601.1:p.Cys1471Ter nonsense NM_001407673.1:c.4413C>A NP_001394602.1:p.Cys1471Ter nonsense NM_001407674.1:c.4413C>A NP_001394603.1:p.Cys1471Ter nonsense NM_001407675.1:c.4413C>A NP_001394604.1:p.Cys1471Ter nonsense NM_001407676.1:c.4413C>A NP_001394605.1:p.Cys1471Ter nonsense NM_001407677.1:c.4413C>A NP_001394606.1:p.Cys1471Ter nonsense NM_001407678.1:c.4413C>A NP_001394607.1:p.Cys1471Ter nonsense NM_001407679.1:c.4413C>A NP_001394608.1:p.Cys1471Ter nonsense NM_001407680.1:c.4413C>A NP_001394609.1:p.Cys1471Ter nonsense NM_001407681.1:c.4410C>A NP_001394610.1:p.Cys1470Ter nonsense NM_001407682.1:c.4410C>A NP_001394611.1:p.Cys1470Ter nonsense NM_001407683.1:c.4410C>A NP_001394612.1:p.Cys1470Ter nonsense NM_001407684.1:c.4539C>A NP_001394613.1:p.Cys1513Ter nonsense NM_001407685.1:c.4410C>A NP_001394614.1:p.Cys1470Ter nonsense NM_001407686.1:c.4410C>A NP_001394615.1:p.Cys1470Ter nonsense NM_001407687.1:c.4410C>A NP_001394616.1:p.Cys1470Ter nonsense NM_001407688.1:c.4410C>A NP_001394617.1:p.Cys1470Ter nonsense NM_001407689.1:c.4410C>A NP_001394618.1:p.Cys1470Ter nonsense NM_001407690.1:c.4407C>A NP_001394619.1:p.Cys1469Ter nonsense NM_001407691.1:c.4407C>A NP_001394620.1:p.Cys1469Ter nonsense NM_001407692.1:c.4398C>A NP_001394621.1:p.Cys1466Ter nonsense NM_001407694.1:c.4398C>A NP_001394623.1:p.Cys1466Ter nonsense NM_001407695.1:c.4398C>A NP_001394624.1:p.Cys1466Ter nonsense NM_001407696.1:c.4398C>A NP_001394625.1:p.Cys1466Ter nonsense NM_001407697.1:c.4398C>A NP_001394626.1:p.Cys1466Ter nonsense NM_001407698.1:c.4398C>A NP_001394627.1:p.Cys1466Ter nonsense NM_001407724.1:c.4398C>A NP_001394653.1:p.Cys1466Ter nonsense NM_001407725.1:c.4398C>A NP_001394654.1:p.Cys1466Ter nonsense NM_001407726.1:c.4398C>A NP_001394655.1:p.Cys1466Ter nonsense NM_001407727.1:c.4398C>A NP_001394656.1:p.Cys1466Ter nonsense NM_001407728.1:c.4398C>A NP_001394657.1:p.Cys1466Ter nonsense NM_001407729.1:c.4398C>A NP_001394658.1:p.Cys1466Ter nonsense NM_001407730.1:c.4398C>A NP_001394659.1:p.Cys1466Ter nonsense NM_001407731.1:c.4398C>A NP_001394660.1:p.Cys1466Ter nonsense NM_001407732.1:c.4395C>A NP_001394661.1:p.Cys1465Ter nonsense NM_001407733.1:c.4395C>A NP_001394662.1:p.Cys1465Ter nonsense NM_001407734.1:c.4395C>A NP_001394663.1:p.Cys1465Ter nonsense NM_001407735.1:c.4395C>A NP_001394664.1:p.Cys1465Ter nonsense NM_001407736.1:c.4395C>A NP_001394665.1:p.Cys1465Ter nonsense NM_001407737.1:c.4395C>A NP_001394666.1:p.Cys1465Ter nonsense NM_001407738.1:c.4395C>A NP_001394667.1:p.Cys1465Ter nonsense NM_001407739.1:c.4395C>A NP_001394668.1:p.Cys1465Ter nonsense NM_001407740.1:c.4395C>A NP_001394669.1:p.Cys1465Ter nonsense NM_001407741.1:c.4395C>A NP_001394670.1:p.Cys1465Ter nonsense NM_001407742.1:c.4395C>A NP_001394671.1:p.Cys1465Ter nonsense NM_001407743.1:c.4395C>A NP_001394672.1:p.Cys1465Ter nonsense NM_001407744.1:c.4395C>A NP_001394673.1:p.Cys1465Ter nonsense NM_001407745.1:c.4395C>A NP_001394674.1:p.Cys1465Ter nonsense NM_001407746.1:c.4395C>A NP_001394675.1:p.Cys1465Ter nonsense NM_001407747.1:c.4395C>A NP_001394676.1:p.Cys1465Ter nonsense NM_001407748.1:c.4395C>A NP_001394677.1:p.Cys1465Ter nonsense NM_001407749.1:c.4395C>A NP_001394678.1:p.Cys1465Ter nonsense NM_001407750.1:c.4395C>A NP_001394679.1:p.Cys1465Ter nonsense NM_001407751.1:c.4395C>A NP_001394680.1:p.Cys1465Ter nonsense NM_001407752.1:c.4395C>A NP_001394681.1:p.Cys1465Ter nonsense NM_001407838.1:c.4392C>A NP_001394767.1:p.Cys1464Ter nonsense NM_001407839.1:c.4392C>A NP_001394768.1:p.Cys1464Ter nonsense NM_001407841.1:c.4392C>A NP_001394770.1:p.Cys1464Ter nonsense NM_001407842.1:c.4392C>A NP_001394771.1:p.Cys1464Ter nonsense NM_001407843.1:c.4392C>A NP_001394772.1:p.Cys1464Ter nonsense NM_001407844.1:c.4392C>A NP_001394773.1:p.Cys1464Ter nonsense NM_001407845.1:c.4392C>A NP_001394774.1:p.Cys1464Ter nonsense NM_001407846.1:c.4392C>A NP_001394775.1:p.Cys1464Ter nonsense NM_001407847.1:c.4392C>A NP_001394776.1:p.Cys1464Ter nonsense NM_001407848.1:c.4392C>A NP_001394777.1:p.Cys1464Ter nonsense NM_001407849.1:c.4392C>A NP_001394778.1:p.Cys1464Ter nonsense NM_001407850.1:c.4392C>A NP_001394779.1:p.Cys1464Ter nonsense NM_001407851.1:c.4392C>A NP_001394780.1:p.Cys1464Ter nonsense NM_001407852.1:c.4392C>A NP_001394781.1:p.Cys1464Ter nonsense NM_001407853.1:c.4392C>A NP_001394782.1:p.Cys1464Ter nonsense NM_001407854.1:c.4539C>A NP_001394783.1:p.Cys1513Ter nonsense NM_001407858.1:c.4536C>A NP_001394787.1:p.Cys1512Ter nonsense NM_001407859.1:c.4536C>A NP_001394788.1:p.Cys1512Ter nonsense NM_001407860.1:c.4536C>A NP_001394789.1:p.Cys1512Ter nonsense NM_001407861.1:c.4533C>A NP_001394790.1:p.Cys1511Ter nonsense NM_001407862.1:c.4338C>A NP_001394791.1:p.Cys1446Ter nonsense NM_001407863.1:c.4413C>A NP_001394792.1:p.Cys1471Ter nonsense NM_001407874.1:c.4332C>A NP_001394803.1:p.Cys1444Ter nonsense NM_001407875.1:c.4332C>A NP_001394804.1:p.Cys1444Ter nonsense NM_001407879.1:c.4329C>A NP_001394808.1:p.Cys1443Ter nonsense NM_001407881.1:c.4329C>A NP_001394810.1:p.Cys1443Ter nonsense NM_001407882.1:c.4329C>A NP_001394811.1:p.Cys1443Ter nonsense NM_001407884.1:c.4329C>A NP_001394813.1:p.Cys1443Ter nonsense NM_001407885.1:c.4329C>A NP_001394814.1:p.Cys1443Ter nonsense NM_001407886.1:c.4329C>A NP_001394815.1:p.Cys1443Ter nonsense NM_001407887.1:c.4329C>A NP_001394816.1:p.Cys1443Ter nonsense NM_001407889.1:c.4329C>A NP_001394818.1:p.Cys1443Ter nonsense NM_001407894.1:c.4326C>A NP_001394823.1:p.Cys1442Ter nonsense NM_001407895.1:c.4326C>A NP_001394824.1:p.Cys1442Ter nonsense NM_001407896.1:c.4326C>A NP_001394825.1:p.Cys1442Ter nonsense NM_001407897.1:c.4326C>A NP_001394826.1:p.Cys1442Ter nonsense NM_001407898.1:c.4326C>A NP_001394827.1:p.Cys1442Ter nonsense NM_001407899.1:c.4326C>A NP_001394828.1:p.Cys1442Ter nonsense NM_001407900.1:c.4326C>A NP_001394829.1:p.Cys1442Ter nonsense NM_001407902.1:c.4326C>A NP_001394831.1:p.Cys1442Ter nonsense NM_001407904.1:c.4326C>A NP_001394833.1:p.Cys1442Ter nonsense NM_001407906.1:c.4326C>A NP_001394835.1:p.Cys1442Ter nonsense NM_001407907.1:c.4326C>A NP_001394836.1:p.Cys1442Ter nonsense NM_001407908.1:c.4326C>A NP_001394837.1:p.Cys1442Ter nonsense NM_001407909.1:c.4326C>A NP_001394838.1:p.Cys1442Ter nonsense NM_001407910.1:c.4326C>A NP_001394839.1:p.Cys1442Ter nonsense NM_001407915.1:c.4323C>A NP_001394844.1:p.Cys1441Ter nonsense NM_001407916.1:c.4323C>A NP_001394845.1:p.Cys1441Ter nonsense NM_001407917.1:c.4323C>A NP_001394846.1:p.Cys1441Ter nonsense NM_001407918.1:c.4323C>A NP_001394847.1:p.Cys1441Ter nonsense NM_001407919.1:c.4416C>A NP_001394848.1:p.Cys1472Ter nonsense NM_001407920.1:c.4275C>A NP_001394849.1:p.Cys1425Ter nonsense NM_001407921.1:c.4275C>A NP_001394850.1:p.Cys1425Ter nonsense NM_001407922.1:c.4275C>A NP_001394851.1:p.Cys1425Ter nonsense NM_001407923.1:c.4275C>A NP_001394852.1:p.Cys1425Ter nonsense NM_001407924.1:c.4275C>A NP_001394853.1:p.Cys1425Ter nonsense NM_001407925.1:c.4275C>A NP_001394854.1:p.Cys1425Ter nonsense NM_001407926.1:c.4275C>A NP_001394855.1:p.Cys1425Ter nonsense NM_001407927.1:c.4272C>A NP_001394856.1:p.Cys1424Ter nonsense NM_001407928.1:c.4272C>A NP_001394857.1:p.Cys1424Ter nonsense NM_001407929.1:c.4272C>A NP_001394858.1:p.Cys1424Ter nonsense NM_001407930.1:c.4272C>A NP_001394859.1:p.Cys1424Ter nonsense NM_001407931.1:c.4272C>A NP_001394860.1:p.Cys1424Ter nonsense NM_001407932.1:c.4272C>A NP_001394861.1:p.Cys1424Ter nonsense NM_001407933.1:c.4272C>A NP_001394862.1:p.Cys1424Ter nonsense NM_001407934.1:c.4269C>A NP_001394863.1:p.Cys1423Ter nonsense NM_001407935.1:c.4269C>A NP_001394864.1:p.Cys1423Ter nonsense NM_001407936.1:c.4269C>A NP_001394865.1:p.Cys1423Ter nonsense NM_001407937.1:c.4416C>A NP_001394866.1:p.Cys1472Ter nonsense NM_001407938.1:c.4416C>A NP_001394867.1:p.Cys1472Ter nonsense NM_001407939.1:c.4413C>A NP_001394868.1:p.Cys1471Ter nonsense NM_001407940.1:c.4413C>A NP_001394869.1:p.Cys1471Ter nonsense NM_001407941.1:c.4410C>A NP_001394870.1:p.Cys1470Ter nonsense NM_001407942.1:c.4398C>A NP_001394871.1:p.Cys1466Ter nonsense NM_001407943.1:c.4395C>A NP_001394872.1:p.Cys1465Ter nonsense NM_001407944.1:c.4395C>A NP_001394873.1:p.Cys1465Ter nonsense NM_001407945.1:c.4395C>A NP_001394874.1:p.Cys1465Ter nonsense NM_001407946.1:c.4206C>A NP_001394875.1:p.Cys1402Ter nonsense NM_001407947.1:c.4206C>A NP_001394876.1:p.Cys1402Ter nonsense NM_001407948.1:c.4206C>A NP_001394877.1:p.Cys1402Ter nonsense NM_001407949.1:c.4206C>A NP_001394878.1:p.Cys1402Ter nonsense NM_001407950.1:c.4203C>A NP_001394879.1:p.Cys1401Ter nonsense NM_001407951.1:c.4203C>A NP_001394880.1:p.Cys1401Ter nonsense NM_001407952.1:c.4203C>A NP_001394881.1:p.Cys1401Ter nonsense NM_001407953.1:c.4203C>A NP_001394882.1:p.Cys1401Ter nonsense NM_001407954.1:c.4203C>A NP_001394883.1:p.Cys1401Ter nonsense NM_001407955.1:c.4203C>A NP_001394884.1:p.Cys1401Ter nonsense NM_001407956.1:c.4200C>A NP_001394885.1:p.Cys1400Ter nonsense NM_001407957.1:c.4200C>A NP_001394886.1:p.Cys1400Ter nonsense NM_001407958.1:c.4200C>A NP_001394887.1:p.Cys1400Ter nonsense NM_001407959.1:c.4158C>A NP_001394888.1:p.Cys1386Ter nonsense NM_001407960.1:c.4155C>A NP_001394889.1:p.Cys1385Ter nonsense NM_001407962.1:c.4155C>A NP_001394891.1:p.Cys1385Ter nonsense NM_001407963.1:c.4152C>A NP_001394892.1:p.Cys1384Ter nonsense NM_001407965.1:c.4032C>A NP_001394894.1:p.Cys1344Ter nonsense NM_001407966.1:c.3651C>A NP_001394895.1:p.Cys1217Ter nonsense NM_001407967.1:c.3648C>A NP_001394896.1:p.Cys1216Ter nonsense NM_001407968.1:c.1935C>A NP_001394897.1:p.Cys645Ter nonsense NM_001407969.1:c.1932C>A NP_001394898.1:p.Cys644Ter nonsense NM_001407970.1:c.1296C>A NP_001394899.1:p.Cys432Ter nonsense NM_001407971.1:c.1296C>A NP_001394900.1:p.Cys432Ter nonsense NM_001407972.1:c.1293C>A NP_001394901.1:p.Cys431Ter nonsense NM_001407973.1:c.1230C>A NP_001394902.1:p.Cys410Ter nonsense NM_001407974.1:c.1230C>A NP_001394903.1:p.Cys410Ter nonsense NM_001407975.1:c.1230C>A NP_001394904.1:p.Cys410Ter nonsense NM_001407976.1:c.1230C>A NP_001394905.1:p.Cys410Ter nonsense NM_001407977.1:c.1230C>A NP_001394906.1:p.Cys410Ter nonsense NM_001407978.1:c.1230C>A NP_001394907.1:p.Cys410Ter nonsense NM_001407979.1:c.1227C>A NP_001394908.1:p.Cys409Ter nonsense NM_001407980.1:c.1227C>A NP_001394909.1:p.Cys409Ter nonsense NM_001407981.1:c.1227C>A NP_001394910.1:p.Cys409Ter nonsense NM_001407982.1:c.1227C>A NP_001394911.1:p.Cys409Ter nonsense NM_001407983.1:c.1227C>A NP_001394912.1:p.Cys409Ter nonsense NM_001407984.1:c.1227C>A NP_001394913.1:p.Cys409Ter nonsense NM_001407985.1:c.1227C>A NP_001394914.1:p.Cys409Ter nonsense NM_001407986.1:c.1227C>A NP_001394915.1:p.Cys409Ter nonsense NM_001407990.1:c.1227C>A NP_001394919.1:p.Cys409Ter nonsense NM_001407991.1:c.1227C>A NP_001394920.1:p.Cys409Ter nonsense NM_001407992.1:c.1227C>A NP_001394921.1:p.Cys409Ter nonsense NM_001407993.1:c.1227C>A NP_001394922.1:p.Cys409Ter nonsense NM_001408392.1:c.1224C>A NP_001395321.1:p.Cys408Ter nonsense NM_001408396.1:c.1224C>A NP_001395325.1:p.Cys408Ter nonsense NM_001408397.1:c.1224C>A NP_001395326.1:p.Cys408Ter nonsense NM_001408398.1:c.1224C>A NP_001395327.1:p.Cys408Ter nonsense NM_001408399.1:c.1224C>A NP_001395328.1:p.Cys408Ter nonsense NM_001408400.1:c.1224C>A NP_001395329.1:p.Cys408Ter nonsense NM_001408401.1:c.1224C>A NP_001395330.1:p.Cys408Ter nonsense NM_001408402.1:c.1224C>A NP_001395331.1:p.Cys408Ter nonsense NM_001408403.1:c.1224C>A NP_001395332.1:p.Cys408Ter nonsense NM_001408404.1:c.1224C>A NP_001395333.1:p.Cys408Ter nonsense NM_001408406.1:c.1221C>A NP_001395335.1:p.Cys407Ter nonsense NM_001408407.1:c.1221C>A NP_001395336.1:p.Cys407Ter nonsense NM_001408408.1:c.1221C>A NP_001395337.1:p.Cys407Ter nonsense NM_001408409.1:c.1218C>A NP_001395338.1:p.Cys406Ter nonsense NM_001408410.1:c.1155C>A NP_001395339.1:p.Cys385Ter nonsense NM_001408411.1:c.1152C>A NP_001395340.1:p.Cys384Ter nonsense NM_001408412.1:c.1149C>A NP_001395341.1:p.Cys383Ter nonsense NM_001408413.1:c.1149C>A NP_001395342.1:p.Cys383Ter nonsense NM_001408414.1:c.1149C>A NP_001395343.1:p.Cys383Ter nonsense NM_001408415.1:c.1149C>A NP_001395344.1:p.Cys383Ter nonsense NM_001408416.1:c.1149C>A NP_001395345.1:p.Cys383Ter nonsense NM_001408418.1:c.1113C>A NP_001395347.1:p.Cys371Ter nonsense NM_001408419.1:c.1113C>A NP_001395348.1:p.Cys371Ter nonsense NM_001408420.1:c.1113C>A NP_001395349.1:p.Cys371Ter nonsense NM_001408421.1:c.1110C>A NP_001395350.1:p.Cys370Ter nonsense NM_001408422.1:c.1110C>A NP_001395351.1:p.Cys370Ter nonsense NM_001408423.1:c.1110C>A NP_001395352.1:p.Cys370Ter nonsense NM_001408424.1:c.1110C>A NP_001395353.1:p.Cys370Ter nonsense NM_001408425.1:c.1107C>A NP_001395354.1:p.Cys369Ter nonsense NM_001408426.1:c.1107C>A NP_001395355.1:p.Cys369Ter nonsense NM_001408427.1:c.1107C>A NP_001395356.1:p.Cys369Ter nonsense NM_001408428.1:c.1107C>A NP_001395357.1:p.Cys369Ter nonsense NM_001408429.1:c.1107C>A NP_001395358.1:p.Cys369Ter nonsense NM_001408430.1:c.1107C>A NP_001395359.1:p.Cys369Ter nonsense NM_001408431.1:c.1107C>A NP_001395360.1:p.Cys369Ter nonsense NM_001408432.1:c.1104C>A NP_001395361.1:p.Cys368Ter nonsense NM_001408433.1:c.1104C>A NP_001395362.1:p.Cys368Ter nonsense NM_001408434.1:c.1104C>A NP_001395363.1:p.Cys368Ter nonsense NM_001408435.1:c.1104C>A NP_001395364.1:p.Cys368Ter nonsense NM_001408436.1:c.1104C>A NP_001395365.1:p.Cys368Ter nonsense NM_001408437.1:c.1104C>A NP_001395366.1:p.Cys368Ter nonsense NM_001408438.1:c.1104C>A NP_001395367.1:p.Cys368Ter nonsense NM_001408439.1:c.1104C>A NP_001395368.1:p.Cys368Ter nonsense NM_001408440.1:c.1104C>A NP_001395369.1:p.Cys368Ter nonsense NM_001408441.1:c.1104C>A NP_001395370.1:p.Cys368Ter nonsense NM_001408442.1:c.1104C>A NP_001395371.1:p.Cys368Ter nonsense NM_001408443.1:c.1104C>A NP_001395372.1:p.Cys368Ter nonsense NM_001408444.1:c.1104C>A NP_001395373.1:p.Cys368Ter nonsense NM_001408445.1:c.1101C>A NP_001395374.1:p.Cys367Ter nonsense NM_001408446.1:c.1101C>A NP_001395375.1:p.Cys367Ter nonsense NM_001408447.1:c.1101C>A NP_001395376.1:p.Cys367Ter nonsense NM_001408448.1:c.1101C>A NP_001395377.1:p.Cys367Ter nonsense NM_001408450.1:c.1101C>A NP_001395379.1:p.Cys367Ter nonsense NM_001408451.1:c.1095C>A NP_001395380.1:p.Cys365Ter nonsense NM_001408452.1:c.1089C>A NP_001395381.1:p.Cys363Ter nonsense NM_001408453.1:c.1089C>A NP_001395382.1:p.Cys363Ter nonsense NM_001408454.1:c.1089C>A NP_001395383.1:p.Cys363Ter nonsense NM_001408455.1:c.1089C>A NP_001395384.1:p.Cys363Ter nonsense NM_001408456.1:c.1089C>A NP_001395385.1:p.Cys363Ter nonsense NM_001408457.1:c.1089C>A NP_001395386.1:p.Cys363Ter nonsense NM_001408458.1:c.1086C>A NP_001395387.1:p.Cys362Ter nonsense NM_001408459.1:c.1086C>A NP_001395388.1:p.Cys362Ter nonsense NM_001408460.1:c.1086C>A NP_001395389.1:p.Cys362Ter nonsense NM_001408461.1:c.1086C>A NP_001395390.1:p.Cys362Ter nonsense NM_001408462.1:c.1086C>A NP_001395391.1:p.Cys362Ter nonsense NM_001408463.1:c.1086C>A NP_001395392.1:p.Cys362Ter nonsense NM_001408464.1:c.1086C>A NP_001395393.1:p.Cys362Ter nonsense NM_001408465.1:c.1086C>A NP_001395394.1:p.Cys362Ter nonsense NM_001408466.1:c.1086C>A NP_001395395.1:p.Cys362Ter nonsense NM_001408467.1:c.1086C>A NP_001395396.1:p.Cys362Ter nonsense NM_001408468.1:c.1083C>A NP_001395397.1:p.Cys361Ter nonsense NM_001408469.1:c.1083C>A NP_001395398.1:p.Cys361Ter nonsense NM_001408470.1:c.1083C>A NP_001395399.1:p.Cys361Ter nonsense NM_001408472.1:c.1227C>A NP_001395401.1:p.Cys409Ter nonsense NM_001408473.1:c.1224C>A NP_001395402.1:p.Cys408Ter nonsense NM_001408474.1:c.1029C>A NP_001395403.1:p.Cys343Ter nonsense NM_001408475.1:c.1026C>A NP_001395404.1:p.Cys342Ter nonsense NM_001408476.1:c.1026C>A NP_001395405.1:p.Cys342Ter nonsense NM_001408478.1:c.1020C>A NP_001395407.1:p.Cys340Ter nonsense NM_001408479.1:c.1020C>A NP_001395408.1:p.Cys340Ter nonsense NM_001408480.1:c.1020C>A NP_001395409.1:p.Cys340Ter nonsense NM_001408481.1:c.1017C>A NP_001395410.1:p.Cys339Ter nonsense NM_001408482.1:c.1017C>A NP_001395411.1:p.Cys339Ter nonsense NM_001408483.1:c.1017C>A NP_001395412.1:p.Cys339Ter nonsense NM_001408484.1:c.1017C>A NP_001395413.1:p.Cys339Ter nonsense NM_001408485.1:c.1017C>A NP_001395414.1:p.Cys339Ter nonsense NM_001408489.1:c.1017C>A NP_001395418.1:p.Cys339Ter nonsense NM_001408490.1:c.1017C>A NP_001395419.1:p.Cys339Ter nonsense NM_001408491.1:c.1017C>A NP_001395420.1:p.Cys339Ter nonsense NM_001408492.1:c.1014C>A NP_001395421.1:p.Cys338Ter nonsense NM_001408493.1:c.1014C>A NP_001395422.1:p.Cys338Ter nonsense NM_001408494.1:c.990C>A NP_001395423.1:p.Cys330Ter nonsense NM_001408495.1:c.984C>A NP_001395424.1:p.Cys328Ter nonsense NM_001408496.1:c.966C>A NP_001395425.1:p.Cys322Ter nonsense NM_001408497.1:c.966C>A NP_001395426.1:p.Cys322Ter nonsense NM_001408498.1:c.966C>A NP_001395427.1:p.Cys322Ter nonsense NM_001408499.1:c.966C>A NP_001395428.1:p.Cys322Ter nonsense NM_001408500.1:c.966C>A NP_001395429.1:p.Cys322Ter nonsense NM_001408501.1:c.966C>A NP_001395430.1:p.Cys322Ter nonsense NM_001408502.1:c.963C>A NP_001395431.1:p.Cys321Ter nonsense NM_001408503.1:c.963C>A NP_001395432.1:p.Cys321Ter nonsense NM_001408504.1:c.963C>A NP_001395433.1:p.Cys321Ter nonsense NM_001408505.1:c.960C>A NP_001395434.1:p.Cys320Ter nonsense NM_001408506.1:c.903C>A NP_001395435.1:p.Cys301Ter nonsense NM_001408507.1:c.900C>A NP_001395436.1:p.Cys300Ter nonsense NM_001408508.1:c.891C>A NP_001395437.1:p.Cys297Ter nonsense NM_001408509.1:c.888C>A NP_001395438.1:p.Cys296Ter nonsense NM_001408510.1:c.849C>A NP_001395439.1:p.Cys283Ter nonsense NM_001408511.1:c.846C>A NP_001395440.1:p.Cys282Ter nonsense NM_001408512.1:c.726C>A NP_001395441.1:p.Cys242Ter nonsense NM_007297.4:c.4398C>A NP_009228.2:p.Cys1466Ter nonsense NM_007298.4:c.1227C>A NP_009229.2:p.Cys409Ter nonsense NM_007299.4:c.1227C>A NP_009230.2:p.Cys409Ter nonsense NM_007300.4:c.4602C>A NP_009231.2:p.Cys1534Ter nonsense NM_007304.2:c.1227C>A NP_009235.2:p.Cys409Ter nonsense NR_027676.2:n.4716C>A non-coding transcript variant NC_000017.11:g.43074467G>T NC_000017.10:g.41226484G>T NG_005905.2:g.143517C>A LRG_292:g.143517C>A LRG_292t1:c.4539C>A LRG_292p1:p.Cys1513Ter - Protein change
- C1534*, C1466*, C409*, C1513*, C1217*, C1402*, C1508*, C1512*, C242*, C300*, C320*, C322*, C328*, C342*, C343*, C362*, C367*, C385*, C431*, C365*, C369*, C410*, C644*, C1469*, C1470*, C1471*, C1509*, C1535*, C283*, C297*, C330*, C339*, C340*, C383*, C384*, C407*, C408*, C432*, C645*, C1344*, C1384*, C1424*, C1442*, C1464*, C1216*, C1401*, C1425*, C1441*, C1444*, C1465*, C1472*, C1486*, C1494*, C1511*, C282*, C301*, C361*, C363*, C1385*, C1386*, C1400*, C1423*, C1443*, C1446*, C1485*, C1487*, C1493*, C1510*, C1533*, C296*, C321*, C338*, C368*, C370*, C371*, C406*
- Other names
- -
- Canonical SPDI
- NC_000017.11:43074466: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 (1) |
criteria provided, single submitter
|
Nov 18, 2019 | RCV001186183.4 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Aug 19, 2022 | RCV002560882.3 |
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. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Nov 18, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV001352534.2
First in ClinVar: Jun 22, 2020 Last updated: Jan 12, 2022 |
Comment:
This variant changes 1 nucleotide in exon 14 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in … (more)
This variant changes 1 nucleotide in exon 14 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. 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. Based on the available evidence, this variant is classified as Pathogenic. (less)
|
|
|
Pathogenic
(Aug 19, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV003225188.2
First in ClinVar: Feb 07, 2023 Last updated: Feb 20, 2024 |
Comment:
This premature translational stop signal has been observed in individual(s) with clinical features of hereditary breast and ovarian cancer (PMID: 31825140). For these reasons, this … (more)
This premature translational stop signal has been observed in individual(s) with clinical features of hereditary breast and ovarian cancer (PMID: 31825140). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 924702). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys1513*) 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)
|
Comment:
Comment:
This premature translational stop signal has been observed in individual(s) with clinical features of hereditary breast and ovarian cancer (PMID: 31825140). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 924702). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys1513*) 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).
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:
This variant changes 1 nucleotide in exon 14 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. 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. Based on the available evidence, this variant is classified as Pathogenic.
Comment:
This premature translational stop signal has been observed in individual(s) with clinical features of hereditary breast and ovarian cancer (PMID: 31825140). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 924702). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys1513*) 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).
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients. | Gao X | Human mutation | 2020 | PMID: 31825140 |
| 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 rs2052610048 ...
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 Sep 29, 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.