ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7846del (p.Ser2616fs) (rs397507940)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000773101 SCV000906562 pathogenic Hereditary cancer-predisposing syndrome 2017-10-06 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000162059 SCV000327744 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Division Human Genetics,Medical University Innsbruck RCV000162059 SCV000212028 pathogenic Breast-ovarian cancer, familial 2 2015-02-11 no assertion criteria provided clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000162059 SCV000301207 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000522847 SCV000617473 pathogenic not provided 2017-03-13 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.7846delT at the cDNA level and p.Ser2616LeufsX32 (S2616LfsX32) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 8074delT. The normal sequence, with the base that is deleted in brackets, is TATT[delT]CTAG. The deletion causes a frameshift which changes a Serine to a Leucine at codon 2616, and creates a premature stop codon at position 32 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA2 c.7846delT has been observed in individuals with hereditary breast and/or ovarian cancer (Meindl 2002, Tea 2014). We consider this variant to be pathogenic.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496617 SCV000587914 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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