ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4996_4997dup (p.Lys1667fs)

dbSNP: rs1555579782
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) RCV000661193 SCV000783448 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.
Invitae RCV000473888 SCV000549280 pathogenic Hereditary breast ovarian cancer syndrome 2016-12-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This sequence change inserts 2 nucleotides in exon 16 of the BRCA1 mRNA (c.4996_4997dupTA), causing a frameshift at codon 1667. This creates a premature translational stop signal (p.Lys1667Thrfs*11) and is expected to result in an absent or disrupted protein product.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477970 SCV004219433 pathogenic not provided 2023-07-10 criteria provided, single submitter clinical testing This variant alters the translational reading frame of the BRCA1 mRNA and causes the premature termination of BRCA1 protein synthesis. In the published literature, this variant has been reported in an individual with breast cancer (PMID: 29928469 (2018)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is 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.