ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4552G>T (p.Glu1518Ter) (rs397507727)

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Total submissions: 2
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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) RCV000241077 SCV000300763 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 RCV000480220 SCV000568467 pathogenic not provided 2016-08-26 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.4552G>T at the cDNA level and p.Glu1518Ter (E1518X) 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 known as 4780G>T by alternate nomenclature, has been identified in at least one hereditary breast/ovarian cancer family (Hamann 2002) and is considered pathogenic.

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