Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000111883 | SCV000299414 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-09-08 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000111883 | SCV000325074 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000111883 | SCV004188825 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2023-09-25 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003987341 | SCV004803501 | pathogenic | Hereditary breast ovarian cancer syndrome | 2024-01-17 | criteria provided, single submitter | clinical testing | Variant summary: BRCA1 c.144delG (p.Met48IlefsX2) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant was absent in 250126 control chromosomes (gnomAD). c.144delG has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (e.g. Figlioli_2021). The following publication has been ascertained in the context of this evaluation (PMID: 33573335). ClinVar contains an entry for this variant (Variation ID: 54256). Based on the evidence outlined above, the variant was classified as pathogenic. |
Breast Cancer Information Core |
RCV000111883 | SCV000144465 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2002-05-29 | no assertion criteria provided | clinical testing |