Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000256551 | SCV000323543 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-10-18 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000256551 | SCV000325507 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000481554 | SCV000569853 | pathogenic | not provided | 2021-05-26 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed in an individual with breast cancer (Yildiz Tacar 2020); Not observed in large population cohorts (Lek 2016); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 3078A>T; This variant is associated with the following publications: (PMID: 29446198, 32846166) |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780985 | SCV000918711 | likely pathogenic | Hereditary breast ovarian cancer syndrome | 2017-11-13 | criteria provided, single submitter | clinical testing | Variant summary: The BRCA1 c.2959A>T (p.Lys987X) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. p.Leu1086X, p.Gln1111X, p.Glu1134X, etc.). This variant is absent in 245952 control chromosomes (gnomAD). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is classified as likely pathogenic. |