ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5213_5216del (p.Thr1738fs) (rs80359493)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 16
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000234881 SCV000273746 pathogenic Hereditary cancer-predisposing syndrome 2015-01-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031532 SCV000146567 pathogenic Breast-ovarian cancer, familial 2 2000-06-12 no assertion criteria provided clinical testing
Color RCV000234881 SCV000292170 pathogenic Hereditary cancer-predisposing syndrome 2016-06-14 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031532 SCV000327171 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000031532 SCV000744465 pathogenic Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000031532 SCV000733263 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031532 SCV000300845 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 RCV000486732 SCV000568472 pathogenic not provided 2018-10-16 criteria provided, single submitter clinical testing This deletion of four nucleotides in BRCA2 is denoted c.5213_5216delCTTA at the cDNA level and p.Thr1738IlefsX2 (T1738IfsX2) at the protein level. The normal sequence, with the bases that are deleted in brackets, is GATA[CTTA]TTTA. The deletion causes a frameshift which changes a Threonine to an Isoleucine at codon 1738, and creates a premature stop codon at position 2 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.5213_5216delCTTA, also published as 5439delTACT, 5441_5444delCTTA and 5441del4 using alternate nomenclature, has been reported in association with breast and/or ovarian cancer (Montagna 2002, van der Hout 2006, Song 2014, Tea 2014, Francies 2015). We consider this variant to be pathogenic.
GeneKor MSA RCV000486732 SCV000693571 pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing
Genologica Medica RCV000031532 SCV000577955 pathogenic Breast-ovarian cancer, familial 2 2017-01-01 criteria provided, single submitter clinical testing
Invitae RCV000044609 SCV000072622 pathogenic Hereditary breast and ovarian cancer syndrome 2018-09-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr1738Ilefs*2) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs753870552, ExAC 0.002%). This variant has been reported in several individuals with breast and ovarian cancer (PMID: 11920643, 24504028, 16683254, 19949876, 24156927, 26659639, 27831900). This variant is also known as 5439delTACT in the literature. ClinVar contains an entry for this variant (Variation ID: 37951). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000044609 SCV000838808 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000031532 SCV000296495 pathogenic Breast-ovarian cancer, familial 2 2016-06-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000486732 SCV000887845 pathogenic not provided 2016-06-10 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000044609 SCV000587749 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000031532 SCV000054137 pathogenic Breast-ovarian cancer, familial 2 2011-08-06 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.