ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2401_2402TG[2] (p.Val802fs) (rs80357706)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497270 SCV000210022 pathogenic not provided 2018-04-25 criteria provided, single submitter clinical testing This deletion of 2 nucleotides is denoted BRCA1 c.2405_2406delTG at the cDNA level and p.Val802GlufsX7 (V802EfsX7) at the protein level. The normal sequence, with the bases that are deleted in brackets, is TGTG[delTG]AGTC. The deletion causes a frameshift, which changes a Valine to a Glutamic Acid at codon 802, and creates a premature stop codon at position 7 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA1 c.2405_2406delTG, previously reported as 2524delTG using alternative nomenclature, has been reported in association with familial breast and/or ovarian cancer and has been shown to segregate with disease (Risch 2001, Meindl 2002, Zuradelli 2010, Carraro 2013, Brianese 2017). We consider this variant to be pathogenic.
Ambry Genetics RCV000162857 SCV000213344 pathogenic Hereditary cancer-predisposing syndrome 2018-03-09 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)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111844 SCV000325345 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000412819 SCV000492473 pathogenic Neoplasm of the breast criteria provided, single submitter research
Color RCV000162857 SCV000683032 pathogenic Hereditary cancer-predisposing syndrome 2017-02-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000111844 SCV000744658 pathogenic Breast-ovarian cancer, familial 1 2015-09-21 criteria provided, single submitter clinical testing
Mendelics RCV000496253 SCV000839269 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111844 SCV000144409 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496253 SCV000587211 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000111844 SCV000733642 pathogenic Breast-ovarian cancer, familial 1 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.