ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2212dup (p.Cys738fs) (rs80359325)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166781 SCV000217594 pathogenic Hereditary cancer-predisposing syndrome 2014-10-30 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)
Breast Cancer Information Core (BIC) (BRCA2) RCV000113022 SCV000146015 pathogenic Breast-ovarian cancer, familial 2 2000-06-12 no assertion criteria provided clinical testing
Color RCV000166781 SCV000905178 pathogenic Hereditary cancer-predisposing syndrome 2018-01-29 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113022 SCV000300496 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 RCV000479438 SCV000571693 pathogenic not provided 2017-05-16 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA2 is denoted c.2212dupT at the cDNA level and p.Cys738LeufsX13 (C738LfsX13) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 2440insT. The normal sequence, with the base that is duplicated in brackets, is AGCA[dupT]GTCA. The duplication causes a frameshift, which changes a Cysteine to a Leucine at codon 738 and creates a premature stop codon at position 13 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.

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