ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1423G>T (p.Glu475Ter) (rs397507587)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577355 SCV000678714 not provided Familial cancer of breast no assertion provided literature only
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000661641 SCV000783941 pathogenic Breast-ovarian cancer, familial 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000657629 SCV000779372 pathogenic not provided 2018-06-05 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.1423G>T at the cDNA level and p.Glu475Ter (E475X) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 1651G>T. 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 has been reported in association with male breast cancer (Machado 2007) and is considered pathogenic.

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