ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4133_4136del (p.Thr1378fs) (rs80359430)

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Total submissions: 6
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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) RCV000113277 SCV000300712 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 RCV000044356 SCV000072369 pathogenic Hereditary breast and ovarian cancer syndrome 2017-03-31 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotides from exon 11 of the BRCA2 mRNA (c.4133_4136delCTCA, causing a frameshift at codon 1378. This creates a premature translational stop signal (p.Thr1378Argfs*9) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This particular variant has been reported in the literature in one individual affected with breast and/or ovarian cancer (PMID: 22460208). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000220994 SCV000276130 pathogenic Hereditary cancer-predisposing syndrome 2015-05-31 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113277 SCV000326977 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113277 SCV000146379 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000044356 SCV000587701 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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