ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2380dup (p.Met794fs) (rs730881602)

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Total submissions: 8
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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) RCV000238934 SCV000300515 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 RCV000160271 SCV000210722 pathogenic not provided 2014-09-16 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA2 is denoted c.2380dupA at the cDNA level and p.Met794AsnfsX8 (M794NfsX8) at the protein level. The normal sequence, with the bases that are duplicated in brackets, is CAAA[A]TGTC. The duplication causes a frameshift, which changes a Methionine to an Asparagine at codon 794, and creates a premature stop codon at position 8 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. we consider this variant to be pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000238934 SCV000326695 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV000496543 SCV000635217 pathogenic Hereditary breast and ovarian cancer syndrome 2017-07-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met794Asnfs*8) 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 not been reported in the literature in individuals with a BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 182309). 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 RCV000570975 SCV000666038 pathogenic Hereditary cancer-predisposing syndrome 2017-12-07 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)
Counsyl RCV000238934 SCV000677805 likely pathogenic Breast-ovarian cancer, familial 2 2016-12-28 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000238934 SCV000297510 pathogenic Breast-ovarian cancer, familial 2 2013-11-05 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496543 SCV000587630 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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