ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3841C>T (p.Gln1281Ter) (rs80356866)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
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) RCV000112195 SCV000300027 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000048350 SCV000076363 pathogenic Hereditary breast and ovarian cancer syndrome 2018-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1281 (p.Gln1281*). It is expected to result in an absent or disrupted protein product. Truncating variants in BRCA1 are known to be pathogenic. This variant has been reported in affected patients in the Breast Cancer Information Core database (PMID: 10923033) and the Universal Mutation Database (PMID: 22144684). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000162868 SCV000213355 pathogenic Hereditary cancer-predisposing syndrome 2018-04-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000112195 SCV000296327 pathogenic Breast-ovarian cancer, familial 1 2015-04-21 criteria provided, single submitter clinical testing
GeneDx RCV000254889 SCV000321432 pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.3841C>T at the cDNA level and p.Gln1281Ter (Q1281X) at the protein level. Using alternate nomenclature, this variant has been published as BRCA1 c.3960C>T. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in numerous breast and/or ovarian cancer patients and families (Claes 1999, Castéra 2014, Caputo 2012, Peelen 1997, Révillion 2004) and is considered pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112195 SCV000325768 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112195 SCV000144892 pathogenic Breast-ovarian cancer, familial 1 1999-12-30 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000048350 SCV000587352 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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.