ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.17_18del (p.Lys6fs) (rs80359298)

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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) RCV000113025 SCV000146019 pathogenic Breast-ovarian cancer, familial 2 1999-06-22 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113025 SCV000326593 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113025 SCV000300283 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 RCV000486492 SCV000569030 likely pathogenic not provided 2015-12-17 criteria provided, single submitter clinical testing This deletion of 2 nucleotides in BRCA2 is denoted c.17_18delAA at the cDNA level and p.Lys6ArgfsX7(K6RfsX7) at the protein level. Using alternate nomenclature, this variant may be defined as BRCA2 245_246delAA. The normal sequence, with the bases that are deleted in braces, is TCCA[AA]GAGA. The deletion causes a frameshift, which changes a Lysine to an Arginine at codon 6, and creates a premature stop codon at position 7 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. Based on the currently available information, we consider this deletion to be a likely pathogenic variant.
Sharing Clinical Reports Project (SCRP) RCV000113025 SCV000189296 pathogenic Breast-ovarian cancer, familial 2 2012-12-27 no assertion criteria provided clinical testing

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