ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.772C>T (p.Gln258Ter) (rs80358998)

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Total submissions: 7
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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) RCV000077409 SCV000300359 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000045296 SCV000073309 pathogenic Hereditary breast and ovarian cancer syndrome 2018-06-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln258*) in the BRCA2 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 been observed in an individual in the Universal Mutation Database (PMID: 22144684). ClinVar contains an entry for this variant (Variation ID: 52395). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000131846 SCV000186901 pathogenic Hereditary cancer-predisposing syndrome 2013-10-03 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077409 SCV000327720 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077409 SCV000109207 pathogenic Breast-ovarian cancer, familial 2 2006-08-22 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077409 SCV000145712 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000045296 SCV000587571 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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