ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.963G>A (p.Trp321Ter) (rs886040335)

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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) RCV000257375 SCV000323940 pathogenic Breast-ovarian cancer, familial 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 RCV000257375 SCV000326475 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV000637520 SCV000758982 pathogenic Hereditary breast and ovarian cancer syndrome 2017-12-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp321*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 266597). A different variant (c.962G>A) giving rise to the same protein effect observed here (p.Trp321*) has been reported in individuals affected with hereditary breast and ovarian cancer (PMID: 26976419, 28503720, 22006311, 9333265, 22535016, 10644434). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735518 SCV000863656 pathogenic Breast and/or ovarian cancer no assertion criteria provided clinical testing

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