ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3331C>T (p.Gln1111Ter) (rs80357089)

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) RCV000112070 SCV000299923 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 RCV000048150 SCV000076163 pathogenic Hereditary breast and ovarian cancer syndrome 2016-05-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1111 (p.Gln1111*). It is expected to result in an absent or disrupted protein product. Truncating variants in BRCA1 are known to be pathogenic. This particular truncation has been reported in individuals affected with breast cancer (PMID: 16168118, 12566964). ClinVar contains an entry for this variant (Variation ID: 54845). For these reasons, this variant has been classified as Pathogenic.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000048150 SCV000271316 pathogenic Hereditary breast and ovarian cancer syndrome 2015-03-23 criteria provided, single submitter clinical testing The p.Gln1111X variant in BRCA1 has been reported in 1 Caucasian individual with breast cancer (Pohlreich 2005) and was absent from large population studies. Th is nonsense variant leads to a premature termination codon at position 1111, whi ch is predicted to lead to a truncated or absent protein. Heterozygous loss of B RCA1 function an established disease mechanism in hereditary breast and ovarian cancer (HBOC). In summary, this variant meets our criteria to be classified as p athogenic for HBOC in an autosomal dominant manner based upon the predicted impa ct to the protein and absence from controls.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112070 SCV000325618 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112070 SCV000144724 pathogenic Breast-ovarian cancer, familial 1 1999-04-12 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.