ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5073del (p.Lys1691fs) (rs80359479)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000113375 SCV000146531 pathogenic Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113375 SCV000744462 pathogenic Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000113375 SCV000733260 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113375 SCV000300825 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 RCV000254644 SCV000210758 pathogenic not provided 2016-08-08 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.5073delA at the cDNA level and p.Lys1691AsnfsX15 (K1691NfsX15) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 5301delA. The normal sequence, with the base that is deleted in braces, is CAAAAAA[A]TGGC. The deletion causes a frameshift which changes a Lysine to an Asparagine at codon 1691, and creates a premature stop codon at position 15 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 BRCA2 c.5073delA to be pathogenic.

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