Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000256851 | SCV000323372 | 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 |
RCV000256851 | SCV000325181 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000811225 | SCV000951481 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-07-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln640*) 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 breast and/or ovarian cancer and breast cancer (PMID: 24633894, 28477318). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 266201). For these reasons, this variant has been classified as Pathogenic. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003477872 | SCV004222579 | pathogenic | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | This nonsense variant causes the premature termination of BRCA1 protein synthesis. It has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been reported in individuals with breast cancer (PMID: 24633894 (2014)). The variant has also been reported in a worldwide screening study of BRCA1 mutation positive families (PMID: 29446198 (2018)). Based on the available information, this variant is classified as pathogenic. |