Total submissions: 8
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Evidence- |
RCV000112186 | SCV000300021 | 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 |
RCV000112186 | SCV000325756 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001853002 | SCV002135640 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-08-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 55006). This variant is also known as 3904C>A. This premature translational stop signal has been observed in individual(s) with a personal and/or family history of breast and ovarian cancer (PMID: 9361038, 23479189, 29446198). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser1262*) 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). |
| Ambry Genetics | RCV002362682 | SCV002625787 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-04-23 | criteria provided, single submitter | clinical testing | The p.S1262* pathogenic mutation (also known as c.3785C>A), located in coding exon 9 of the BRCA1 gene, results from a C to A substitution at nucleotide position 3785. This changes the amino acid from a serine to a stop codon within coding exon 9. This alteration was reported in one family from eastern Spain with at least three individuals with breast cancer (de Juan Jiménez I et al. Fam. Cancer, 2013 Dec;12:767-77; Rebbeck TR et al. Hum. Mutat., 2018 05;39:593-620). In addition to the information presented in the literature, 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. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV002477171 | SCV002774310 | pathogenic | not provided | 2021-06-16 | criteria provided, single submitter | clinical testing | This nonsense variant is predicted to cause the premature termination of BRCA1 protein synthesis. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In addition, it has been identified in individuals with BRCA-related cancers in the published literature (PMID: 29446198 (2018), 23479189 (2013), 20033483 (2010), 9361038 (1997)). Based on the available information, this variant is classified as pathogenic. |
| Baylor Genetics | RCV000112186 | SCV004216937 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2022-07-29 | criteria provided, single submitter | clinical testing | |
| Breast Cancer Information Core |
RCV000112186 | SCV000144881 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 1997-11-18 | no assertion criteria provided | clinical testing | |
| BRCAlab, |
RCV000112186 | SCV004244024 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2020-03-02 | no assertion criteria provided | clinical testing |