ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6014_6017del (p.Asp2005fs) (rs1057518635)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000661605 SCV000783902 pathogenic Breast-ovarian cancer, familial 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000414026 SCV000492449 pathogenic Neoplasm of the breast criteria provided, single submitter research
GeneDx RCV000479529 SCV000567402 pathogenic not provided 2015-07-22 criteria provided, single submitter clinical testing This deletion of 4 nucleotides in BRCA2 is denoted c.6014_6017delATAG at the cDNA level and p.Asp2005ValfsX34 (D2005VfsX34) at the protein level. The normal sequence, with the bases that are deleted in braces, is GAAG[ATAG]TACC. The deletion causes a frameshift, which changes an Aspartic Acid to a Valine at codon 2005, and creates a premature stop codon at position 34 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.6014_6017delATAG, previously reported as BRCA2 6242del4, has been identified in at least one individual with Hereditary Breast and Ovarian Cancer (Silva 2014). We consider this mutation to be pathogenic

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