ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4462_4463CA[1] (p.His1488fs) (rs397507720)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506592 SCV000602800 pathogenic not specified 2016-10-12 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000256156 SCV000574952 likely pathogenic not provided 2017-01-31 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000661726 SCV000784033 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 RCV000256156 SCV000321460 pathogenic not provided 2017-08-22 criteria provided, single submitter clinical testing This deletion of 2 nucleotides in BRCA2 is denoted c.4464_4465delCA at the cDNA level and p.His1488GlnfsX25 (H1488QfsX25) at the protein level. The normal sequence, with the bases that are deleted in brackets, is AACA[CA]AAAT. The deletion causes a frameshift, which changes a Histidine to a Glutamine at codon 1488, and creates a premature stop codon at position 25 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.4464_4465delCA, previously reported as BRCA2 4689delAC using alternate nomenclature, has been published in a hereditary ovarian cancer case and is considered pathogenic (Norquist 2011).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000256156 SCV000887819 pathogenic not provided 2018-05-13 criteria provided, single submitter clinical testing

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