ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1970T>A (p.Leu657Ter) (rs397507279)

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Total submissions: 5
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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) RCV000031352 SCV000300481 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000223168 SCV000275441 pathogenic Hereditary cancer-predisposing syndrome 2019-05-31 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000558782 SCV000635194 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu657*) 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 BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 37771). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000657697 SCV000779446 pathogenic not provided 2016-10-01 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.1970T>A at the cDNA level and p.Leu657Ter (L657X) at the protein level. The substitution creates a nonsense variant, which changes a Leucine to a premature stop codon (TTG>TAG), 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.
Sharing Clinical Reports Project (SCRP) RCV000031352 SCV000053957 pathogenic Breast-ovarian cancer, familial 2 2010-06-14 no assertion criteria provided clinical testing

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