Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000111760 | SCV000299694 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV000257894 | SCV000219213 | pathogenic | Breast and/or ovarian cancer | 2018-09-06 | criteria provided, single submitter | clinical testing | |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000111760 | SCV000325226 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001092623 | SCV001249208 | pathogenic | not provided | 2019-07-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001388123 | SCV001588992 | pathogenic | Hereditary breast ovarian cancer syndrome | 2020-04-20 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with ovarian cancer (PMID: 30606148). ClinVar contains an entry for this variant (Variation ID: 125535). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp693Valfs*9) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV002415589 | SCV002726739 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-05-23 | criteria provided, single submitter | clinical testing | The c.2077_2078insTA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from an insertion of two nucleotides at position 2077, causing a translational frameshift with a predicted alternate stop codon (p.D693Vfs*9). This alteration was reported in a Brazilian cohort of 158 ovarian cancer patients who underwent BRCA1/2 testing in a patient with a positive family history who had a stage IV high grade serous ovarian carcinoma diagnosed in her 40s (Cotrim DP et al. BMC Cancer, 2019 Jan;19:4). 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. |
Breast Cancer Information Core |
RCV000111760 | SCV000144290 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion criteria provided | clinical testing |