ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2809A>T (p.Lys937Ter)

dbSNP: rs1555588915
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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) RCV000661051 SCV000783297 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506940 SCV000600303 likely pathogenic not provided 2016-10-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438229 SCV002752308 pathogenic Hereditary cancer-predisposing syndrome 2016-12-30 criteria provided, single submitter clinical testing The p.K937* pathogenic mutation (also known as c.2809A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at nucleotide position 2809. This changes the amino acid from a lysine to a stop codon within coding exon 9. 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.
Invitae RCV002527338 SCV003349115 pathogenic Hereditary breast ovarian cancer syndrome 2022-05-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys937*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 438921). For these reasons, this variant has been classified as Pathogenic.

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.