ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9097del (p.Thr3033fs) (rs397507419)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566875 SCV000665044 pathogenic Hereditary cancer-predisposing syndrome 2018-03-01 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)
Color RCV000566875 SCV000905025 pathogenic Hereditary cancer-predisposing syndrome 2017-11-02 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031792 SCV000328045 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000031792 SCV000489485 pathogenic Breast-ovarian cancer, familial 2 2016-10-10 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031792 SCV000301349 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000657170 SCV000778891 pathogenic not provided 2018-08-17 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.9097delA at the cDNA level and p.Thr3033LeufsX29 (T3033LfsX29) at the protein level. Using alternate nomenclature, this variant would also be defined as BRCA2 9090delA or BRCA2 9325delA. The normal sequence, with the base that is deleted in brackets, is CAAAAAAA[delA]CTCA. The deletion causes a frameshift which changes a Threonine to a Leucine at codon 3033, and creates a premature stop codon at position 29 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. BRCA2 c.9097delA has been observed in numerous breast and/or ovarian cancer probands and families (van der Hout 2006, Caux-Moncoutier 2011, Miolo 2009, Ang 2007, Kang 2014, Peixoto 2014, Wong 2015). We consider this variant to be pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000589165 SCV000695207 pathogenic Hereditary breast and ovarian cancer syndrome 2017-06-16 criteria provided, single submitter clinical testing Variant summary: The c.9097delA (p.Thr3033Leufs) variant in BRCA2 gene is a frameshift change that is predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay. The variant is absent from the large control population dataset of ExAC and is present at a low frequency in gnomAD dataset (0.00003229; 1/30970chrs tested), which does not exceed exceed the estimated maximal expected allele frequency of a pathogenic variant (0.00075). The variant have been reported in multiple affected individuals via published reports and cited by reputable databases/clinical laboratories as Pathogenic. Taking together, the variant was classified as Pathogenic.
Mendelics RCV000589165 SCV000838893 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031792 SCV000054400 pathogenic Breast-ovarian cancer, familial 2 2012-05-01 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.