ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2955del (p.Ile986fs)

dbSNP: rs397509027
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) RCV000083192 SCV000299863 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV002433543 SCV002751961 pathogenic Hereditary cancer-predisposing syndrome 2021-07-16 criteria provided, single submitter clinical testing The c.2955delC pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2955, causing a translational frameshift with a predicted alternate stop codon (p.I986Sfs*14). This alteration was identified in an individual diagnosed with triple negative breast cancer at the age of 27 (Robertson L et al. Br J Cancer, 2012 Mar;106:1234-8). In addition to the clinical data presented in the literature, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003529961 SCV004296823 pathogenic Hereditary breast ovarian cancer syndrome 2023-09-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile986Serfs*14) 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 premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 22333603). ClinVar contains an entry for this variant (Variation ID: 54731). For these reasons, this variant has been classified as Pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000083192 SCV000115266 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2013-04-03 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.