ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7063G>T (p.Glu2355Ter) (rs200078639)

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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) RCV000241131 SCV000301127 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 RCV000241131 SCV000327587 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV000526031 SCV000635556 pathogenic Hereditary breast and ovarian cancer syndrome 2017-06-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu2355*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs200078639, ExAC 0.009%). 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: 254595). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000657669 SCV000779418 pathogenic not provided 2016-04-11 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.7063G>T at the cDNA level and p.Glu2355Ter (E2355X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon (GAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, also defined as 7291G>T using alternate nomenclature, has been reported in association with breast and ovarian cancer (Ruark 2013) and is considered pathogenic.

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