ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2959A>T (p.Lys987Ter)

dbSNP: rs878854941
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000256551 SCV000323543 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000256551 SCV000325507 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000481554 SCV000569853 pathogenic not provided 2021-05-26 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed in an individual with breast cancer (Yildiz Tacar 2020); Not observed in large population cohorts (Lek 2016); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 3078A>T; This variant is associated with the following publications: (PMID: 29446198, 32846166)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780985 SCV000918711 likely pathogenic Hereditary breast ovarian cancer syndrome 2017-11-13 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.2959A>T (p.Lys987X) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. p.Leu1086X, p.Gln1111X, p.Glu1134X, etc.). This variant is absent in 245952 control chromosomes (gnomAD). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is classified as likely pathogenic.

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