Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000661436 | SCV000783713 | 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. |
Gene |
RCV000238954 | SCV000296830 | pathogenic | Familial cancer of breast | 2020-01-01 | criteria provided, single submitter | clinical testing | This sequence change deletes 13 nucleotides and inserts one nucleotides into exon 15 of the BRCA2 mRNA (c.7508_7521delinsG ) causing a frameshift after codon 2503 and the creation of a premature translation stop signal 17 amino acid residues later p.(Val2503Glyfs) This is expected to result in an absent or disrupted protein product. Truncating variants in BRCA2 are known to be pathogenic. This mutation has been described in the mutation database ClinVar (Variation ID: 252447). |