ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4515_4525del (p.Phe1506fs)

dbSNP: rs863224827
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
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) RCV000240973 SCV000300757 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Labcorp Genetics (formerly Invitae), Labcorp RCV000199893 SCV000255252 pathogenic Hereditary breast ovarian cancer syndrome 2022-08-20 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: 216855). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe1506Thrfs*4) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584).
Ambry Genetics RCV000575412 SCV000668824 pathogenic Hereditary cancer-predisposing syndrome 2019-04-11 criteria provided, single submitter clinical testing The c.4515_4525del11 pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a deletion of 11 nucleotides at nucleotide positions 4515 to 4525, causing a translational frameshift with a predicted alternate stop codon (p.F1506Tfs*4). 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.
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001729453 SCV001976827 pathogenic Fanconi anemia complementation group D1 2021-10-05 criteria provided, single submitter clinical testing PVS1, PM2, PP5
Baylor Genetics RCV003474965 SCV004212902 pathogenic Familial cancer of breast 2021-09-24 criteria provided, single submitter 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.