ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4037_4038del (p.Thr1346fs) (rs80359421)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077318 SCV000282386 pathogenic Breast-ovarian cancer, familial 2 2016-04-22 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 RCV000077318 SCV000326962 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000077318 SCV000489032 pathogenic Breast-ovarian cancer, familial 2 2016-08-03 criteria provided, single submitter clinical testing
GeneDx RCV000478122 SCV000564774 pathogenic not provided 2017-08-17 criteria provided, single submitter clinical testing This deletion of 2 nucleotides in BRCA2 is denoted c.4037_4038delCT at the cDNA level and p.Thr1346SerfsX5 (T1346SfsX5) at the protein level. The normal sequence, with the bases that are deleted in braces, is GATA[CT]GTTT. The deletion causes a frameshift, which changes a Threonine to a Serine at codon 1346, and creates a premature stop codon at position 5 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.4037_4038delCT, previously reported as 4265delCT using alternate nomenclature, has been reported in individuals with a personal history of breast and/or ovarian cancer and has been described as a Filipino founder variant (Johannsson 1999, Wagner 1999, De Leon Matsuda 2002, Lubinski 2004,Thirthagiri 2008). We consider this variant to be pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000478122 SCV000600572 pathogenic not provided 2016-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568203 SCV000661155 pathogenic Hereditary cancer-predisposing syndrome 2017-05-16 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),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Sharing Clinical Reports Project (SCRP) RCV000077318 SCV000109115 pathogenic Breast-ovarian cancer, familial 2 2013-08-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077318 SCV000146359 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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