Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000113889 | SCV000301256 | pathogenic | Breast-ovarian cancer, familial 2 | 2016-09-08 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Gene |
RCV000236578 | SCV000293486 | pathogenic | not provided | 2018-08-15 | criteria provided, single submitter | clinical testing | This variant is denoted BRCA2 c.8219T>A at the cDNA level and p.Leu2740Ter (L2740X) at the protein level. The substitution creates a nonsense variant, which changes a Leucine to a premature stop codon (TTA>TAA) , and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in a Fanconi anemia patient with a second truncating BRCA2 variant in trans (Popp 2003, Hirsch 2004) and is considered pathogenic. |
OMIM | RCV000009934 | SCV000030155 | pathogenic | Fanconi anemia, complementation group D1 | 2004-04-01 | no assertion criteria provided | literature only | |
Breast Cancer Information Core |
RCV000113889 | SCV000147301 | pathogenic | Breast-ovarian cancer, familial 2 | 2003-12-23 | no assertion criteria provided | clinical testing |