ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2231C>G (p.Ser744Ter) (rs397507282)

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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) RCV000031358 SCV000300500 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031358 SCV000326674 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000481885 SCV000568004 pathogenic not provided 2016-06-02 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.2231C>G at the cDNA level and p.Ser744Ter (S744X) at the protein level. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, also denoted BRCA2 2459C>G using alternate nomenclature, has been observed in individuals with a personal and/or family history of breast and/or ovarian cancer (Heidemann 2012, Nielsen 2016) and is considered pathogenic.
Ambry Genetics RCV000572355 SCV000668649 pathogenic Hereditary cancer-predisposing syndrome 2016-04-28 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV000572355 SCV001356466 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031358 SCV000053963 pathogenic Breast-ovarian cancer, familial 2 2008-03-25 no assertion criteria provided clinical testing

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