Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000083180 | SCV000299719 | 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. |
Labcorp Genetics |
RCV001857390 | SCV002246469 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-10-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu736Lysfs*17) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with personal and/or family history of BRCA1-related conditions (PMID: 9254884). This variant is also known as 2325delG. ClinVar contains an entry for this variant (Variation ID: 54498). For these reasons, this variant has been classified as Pathogenic. |
Prevention |
RCV004554656 | SCV004118551 | pathogenic | BRCA1-related disorder | 2022-08-26 | criteria provided, single submitter | clinical testing | The BRCA1 c.2206delG variant is predicted to result in a frameshift and premature protein termination (p.Glu736Lysfs*17). This variant has been reported in at least one individual with BRCA1-related conditions (Described as 2325delG, Lancaster et al. 1997. PubMed ID: 9254884). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in BRCA1 are expected to be pathogenic. This variant is interpreted as pathogenic. |
Sharing Clinical Reports Project |
RCV000083180 | SCV000115254 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2012-05-01 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000083180 | SCV000144336 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2004-02-20 | no assertion criteria provided | clinical testing |