Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000238937 | SCV000296810 | pathogenic | Familial cancer of breast | 2020-01-01 | criteria provided, single submitter | clinical testing | This variant is a single amino acid change from Glutamine to a Termination codon at amino acid residue 373 of the BRCA2 gene. It results in a truncated non-functional protein. Truncating variants in the BRCA2 gene are known to be pathogenic. The mutation database ClinVar contains entries for this variant (Variation ID: 51065). |