ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8546del (p.Lys2849fs) (rs397507991)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000256678 SCV000327920 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) RCV000256678 SCV000324677 pathogenic Breast-ovarian cancer, familial 2 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000657232 SCV000778958 pathogenic not provided 2016-12-12 criteria provided, single submitter clinical testing This deletion of four nucleotides in BRCA2 is denoted c.8546delA at the cDNA level and p.Lys2849ArgfsX14 (K2849RfsX14) at the protein level. The normal sequence, with the bases that are deleted in brackets, is GAAA[delA]GGAA. The deletion causes a frameshift which changes a Lysine to an Arginine at codon 2849, and creates a premature stop codon at position 14 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.8546delA, also reported as BRCA2 8774delA using alternate nomenclature, has been observed in association with familial breast cancer (Meindl 2002) and is considered pathogenic.

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