ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6373del (p.Thr2125fs) (rs80359577)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570930 SCV000668849 pathogenic Hereditary cancer-predisposing syndrome 2017-08-19 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
Breast Cancer Information Core (BIC) (BRCA2) RCV000077372 SCV000146835 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Color RCV000570930 SCV000683778 pathogenic Hereditary cancer-predisposing syndrome 2017-04-27 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077372 SCV000327406 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077372 SCV000301024 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 RCV000217749 SCV000279220 pathogenic not provided 2017-01-23 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.6373delA at the cDNA level and p.Thr2125ProfsX12(T2125PfsX12) at the protein level. Using alternate nomenclature, this variant has been published as BRCA2 6601delA. The normal sequence, with the base that is deleted in braces, is GAAAAA[A]CCTG. The deletion causes a frameshift, which changes a Threonine to a Proline at codon 2125, and creates a premature stop codon at position 12 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.6373delA has been reported in association with hereditary breast and ovarian cancer, in at least one individual with pancreatic cancer, and has been described as a pathogenic founder variant in the Danish population (HÃ¥kansson 1997, Thomassen 2008, Janavicius 2010, Nielsen 2016, Roed Nielsen 2016, Sharma 2016). We consider this variant to be pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000077372 SCV000109169 pathogenic Breast-ovarian cancer, familial 2 2010-02-22 no assertion criteria provided clinical testing

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