ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1449_1451delinsTTAC (p.Val484fs)

dbSNP: rs397507589
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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) RCV000661599 SCV000783896 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV004018929 SCV005024495 pathogenic Hereditary cancer-predisposing syndrome 2023-10-25 criteria provided, single submitter clinical testing The c.1449_1451delAGTinsTTAC pathogenic mutation, located in coding exon 9 of the BRCA2 gene, results from the deletion of 3 nucleotides and insertion of 4 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.V484Yfs*30). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577693 SCV000678721 not provided Familial cancer of breast no assertion provided literature only

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.