Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000111645 | SCV000299619 | 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. |
Invitae | RCV000047520 | SCV000075533 | pathogenic | Hereditary breast ovarian cancer syndrome | 2021-08-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Phe517Leufs*15) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with breast cancer (PMID: 22762150). ClinVar contains an entry for this variant (Variation ID: 54289). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic. |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000111645 | SCV000325098 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003894894 | SCV004708818 | pathogenic | BRCA1-related condition | 2023-11-18 | criteria provided, single submitter | clinical testing | The BRCA1 c.1551delT variant is predicted to result in a frameshift and premature protein termination (p.Phe517Leufs*15). This variant was reported in an individual from a breast cancer registry, although no clinical information was provided (Supplement, Lecarpentier et al. 2012. PubMed ID: 22762150). It has also been reported in an individual with Merkel cell carcinoma (Table 2, Gaubert et al. 2023. PubMed ID: 36754117). This variant has not been reported in a large population database, indicating this variant is rare. It is interpreted as pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/54289/). Frameshift variants in BRCA1 are expected to be pathogenic. This variant is interpreted as pathogenic. |
Breast Cancer Information Core |
RCV000111645 | SCV000144129 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion criteria provided | clinical testing |