ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2915del (p.Gly972fs) (rs80357573)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000111963 SCV000299852 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000509806 SCV000607841 pathogenic Hereditary cancer-predisposing syndrome 2018-12-03 criteria provided, single submitter clinical testing The c.2915delG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2915, causing a translational frameshift with a predicted alternate stop codon (p.G972Dfs*28). 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.
Counsyl RCV000111963 SCV000677647 likely pathogenic Breast-ovarian cancer, familial 1 2017-01-25 criteria provided, single submitter clinical testing
Color Health, Inc RCV000509806 SCV000909328 pathogenic Hereditary cancer-predisposing syndrome 2020-05-07 criteria provided, single submitter clinical testing
Invitae RCV001382383 SCV001581133 pathogenic Hereditary breast and ovarian cancer syndrome 2020-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly972Aspfs*28) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 54716). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111963 SCV000144579 pathogenic Breast-ovarian cancer, familial 1 2003-12-23 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.