Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000111823 | SCV000299744 | 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. |
Ambry Genetics | RCV000132319 | SCV000187405 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-03-24 | criteria provided, single submitter | clinical testing | The c.2314delG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2314, causing a translational frameshift with a predicted alternate stop codon (p.V772Yfs*20). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Invitae | RCV001383182 | SCV001582252 | pathogenic | Hereditary breast ovarian cancer syndrome | 2021-01-03 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val772Tyrfs*20) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant has been reported in an individual affected with breast cancer (PMID: 20104584). ClinVar contains an entry for this variant (Variation ID: 54532). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001800356 | SCV002046693 | pathogenic | not provided | 2021-03-08 | criteria provided, single submitter | clinical testing | This frameshift variant causes the premature termination of BRCA1 protein synthesis. In addition, it has been reported in an individual affected with breast cancer in the published literature (PMID: 20104584 (2010)). This variant has not been reported in large, multi-ethnic general populations. Therefore, the variant is classified as pathogenic. |
Breast Cancer Information Core |
RCV000111823 | SCV000144377 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2004-11-25 | no assertion criteria provided | clinical testing |