ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3593del (p.Asn1198fs) (rs397507677)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000241527 SCV000744441 pathogenic Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000241527 SCV000733247 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000241527 SCV000300645 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 RCV000479513 SCV000568464 pathogenic not provided 2015-12-28 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.3593delA at the cDNA level and p.Asn1198MetfsX11(N1198MfsX11) at the protein level. Using alternate nomenclature, this variant may be defined as BRCA2 3821delA. The normal sequence, with the base that is deleted in braces, is GAAAA[A]TGAC. The deletion causes a frameshift, which changes an Asparagine to a Methionine at codon 1198, and creates a premature stop codon at position 11 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.3593delA has been reported in high risk breast and/or ovarian cancer families (Piek 2003, Hermsen 2006, van der Hout 2006). We consider this variant to be pathogenic.

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