ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6068_6072del (p.Asp2023fs) (rs80359555)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162928 SCV000213415 pathogenic Hereditary cancer-predisposing syndrome 2014-06-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Breast Cancer Information Core (BIC) (BRCA2) RCV000113523 SCV000146758 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000162928 SCV000688965 pathogenic Hereditary cancer-predisposing syndrome 2017-06-29 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113523 SCV000300978 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 RCV000497281 SCV000210773 pathogenic not provided 2017-09-06 criteria provided, single submitter clinical testing This deletion of five nucleotides is denoted BRCA2 c.6068_6072delACCAG at the cDNA level and p.Asp2023AlafsX24 (D2023AfsX24) at the protein level. The normal sequence, with the bases that are deleted in brackets, is TCAG[delACCAG]CTCA. The deletion causes a frameshift, which changes an Aspartic Acid to an Alanine at codon 2023, and creates a premature stop codon at position 24 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.6068_6072delACCAG has been observed in individuals with breast cancer (female and male)(Susswein 2016, Pritzlaff 2017). We consider it to be pathogenic.

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