Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000257867 | SCV000323912 | 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 |
RCV000257867 | SCV000326413 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000985446 | SCV001133646 | pathogenic | not provided | 2018-10-20 | criteria provided, single submitter | clinical testing | The variant results in a shift of the reading frame, and is therefore predicted to significantly disrupt the protein structure. Found in at least one symptomatic patient, and not found in general population data. |
Invitae | RCV001203947 | SCV001375132 | pathogenic | Hereditary breast ovarian cancer syndrome | 2019-09-22 | 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). This variant has been observed in a family affected with ovarian and breast cancer (PMID: 17688236). ClinVar contains an entry for this variant (Variation ID: 55709). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser267Phefs*20) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV003298098 | SCV004004311 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-04-06 | criteria provided, single submitter | clinical testing | The c.799dupT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of T at nucleotide position 799, causing a translational frameshift with a predicted alternate stop codon (p.S267Ffs*20). This alteration was identified in 1 of 283 epithelial ovarian cancer families from the United Kingdom and the United States undergoing BRCA1/2 genetic testing (Ramus SJ et al. Hum Mutat, 2007 Dec;28:1207-15). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data 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. |