Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
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, |
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. |