ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6036del (p.Val2014fs) (rs1555284508)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000509841 SCV000607884 pathogenic Hereditary cancer-predisposing syndrome 2017-04-19 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)
Color RCV000509841 SCV000688962 pathogenic Hereditary cancer-predisposing syndrome 2016-08-26 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000661427 SCV000783704 pathogenic Breast-ovarian cancer, familial 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000657441 SCV000779176 pathogenic not provided 2017-12-29 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.6036delC at the cDNA level and p.Val2014TyrfsX26 (V2014YfsX26) at the protein level. The normal sequence, with the base that is deleted in brackets, is TTTC[delC]AAAG. The deletion causes a frameshift which changes a Valine to a Tyrosine at codon 2014, and creates a premature stop codon at position 26 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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