ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1381G>T (p.Glu461Ter)

dbSNP: rs587782159
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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) RCV000661624 SCV000783922 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000506635 SCV000605814 pathogenic Hereditary breast ovarian cancer syndrome 2017-01-31 criteria provided, single submitter clinical testing The p.Glu461X variant in BRCA2 has not been previously reported in individuals w ith BRCA1-associated cancers or in large population studies. This nonsense varia nt leads to a premature termination codon at position 461, which is predicted to lead to a truncated or absent protein. Heterozygous loss of function of the BRC A2 gene is an established disease mechanism in individuals with hereditary breas t and ovarian cancer (HBOC). In summary, this variant meets criteria to be class ified as pathogenic for HBOC in an autosomal dominant manner based upon the pred icted impact to the protein.

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