ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2685_2686del (p.Pro897fs) (rs80357636)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 14
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) RCV000077525 SCV000299810 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077525 SCV000325431 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000504509 SCV000591405 pathogenic Hereditary breast and ovarian cancer syndrome 2012-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000510104 SCV000607768 pathogenic Hereditary cancer-predisposing syndrome 2018-08-13 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Counsyl RCV000077525 SCV000677645 pathogenic Breast-ovarian cancer, familial 1 2017-01-05 criteria provided, single submitter clinical testing
Color RCV000510104 SCV000683055 pathogenic Hereditary cancer-predisposing syndrome 2017-05-11 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000504509 SCV000698973 pathogenic Hereditary breast and ovarian cancer syndrome 2016-05-16 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.2685_2686delAA (p.Pro897Lysfs) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Mutation taster predicts a damaging outcome for this variant. The variant is absent in 121354 control chromosomes while it was reported in several HBOC patients indicating a deleterious impact. The variant is most prevalent in patients of Dutch origin and is known as a Dutch founder mutation (Peelen_AJHG_1997). Multiple clinical diagnostic laboratories/reputable databases classified this variant as Pathogenic. Taken together, this variant is classified as Pathogenic.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000077525 SCV000743411 pathogenic Breast-ovarian cancer, familial 1 2014-10-10 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000077525 SCV000744649 pathogenic Breast-ovarian cancer, familial 1 2015-09-21 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077525 SCV000109326 pathogenic Breast-ovarian cancer, familial 1 2011-07-31 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077525 SCV000144512 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Pathway Genomics RCV000077525 SCV000189893 pathogenic Breast-ovarian cancer, familial 1 2014-07-24 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000077525 SCV000733637 pathogenic Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000077525 SCV000745680 pathogenic Breast-ovarian cancer, familial 1 2016-03-18 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.