ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1972del (p.Met658fs)

dbSNP: rs397507195
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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) RCV000031020 SCV000299679 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-09-08 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 RCV000031020 SCV000325206 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV001852616 SCV002238175 pathogenic Hereditary breast ovarian cancer syndrome 2021-10-23 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 37439). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Met658Cysfs*43) 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).
Sharing Clinical Reports Project (SCRP) RCV000031020 SCV000053613 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2007-09-06 no assertion criteria provided clinical testing

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