ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4940_4941del (p.Thr1647fs) (rs397507751)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132504 SCV000187598 pathogenic Hereditary cancer-predisposing syndrome 2017-04-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077342 SCV000327108 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077342 SCV000300805 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 RCV000487067 SCV000568469 pathogenic not provided 2017-10-09 criteria provided, single submitter clinical testing This deletion of two nucleotides in BRCA2 is denoted c.4940_4941delCA at the cDNA level and p.Thr1647SerfsX18 (T1647SfsX18) at the protein level. The normal sequence, with the bases that are deleted in brackets, is GAAA[delCA]GCAA. The deletion causes a frameshift which changes a Threonine to a Serine at codon 1647, and creates a premature stop codon at position 18 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. This variant, also reported as BRCA2 5168_5169delCA or 5168delCA using alternate nomenclature, was observed in at least one male breast cancer case as well as in one individual with a family history of breast cancer (De Leon Matsuda 2002, Pritzlaff 2016). We consider this variant to be pathogenic.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496442 SCV000587733 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000077342 SCV000109139 pathogenic Breast-ovarian cancer, familial 2 2010-09-22 no assertion criteria provided clinical testing

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