ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8253dup (p.Ile2752fs) (rs80359704)

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Total submissions: 7
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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) RCV000031729 SCV000301260 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 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 RCV000031729 SCV000327845 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000478270 SCV000573496 pathogenic not provided 2018-03-15 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA2 is denoted c.8253dupT at the cDNA level and p.Ile2752TyrfsX12 (I2752YfsX12) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 8481insT or 8253_8254insT. The normal sequence, with the base that is duplicated in brackets, is AGAT[dupT]ATTC. The duplication causes a frameshift which changes an Isoleucine to a Tyrosine at codon 2752, 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.8253dupT has been observed as a positive control in a technology validation study, no clinical information was provided (De Leeneer 2015). We consider this variant to be pathogenic.
Ambry Genetics RCV000567687 SCV000666146 pathogenic Hereditary cancer-predisposing syndrome 2017-03-16 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)
Color RCV000567687 SCV000689110 pathogenic Hereditary cancer-predisposing syndrome 2015-04-07 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031729 SCV000054336 pathogenic Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031729 SCV000147312 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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