ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5054C>A (p.Ser1685Ter) (rs398122791)

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Total submissions: 4
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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) RCV000077740 SCV000300820 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 RCV000255153 SCV000321467 pathogenic not provided 2018-11-19 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.5054C>A at the cDNA level and p.Ser1685Ter (S1685X) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 5282C>A. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.
Invitae RCV000802160 SCV000941978 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1685*) 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 been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 91832). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000077740 SCV000109543 pathogenic Breast-ovarian cancer, familial 2 2010-03-05 no assertion criteria provided clinical testing

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