ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6480del (p.Asp2161fs) (rs1064793471)

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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) RCV000661652 SCV000783953 pathogenic Breast-ovarian cancer, familial 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000487195 SCV000566205 pathogenic not provided 2018-10-24 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.6480delA at the cDNA level and p.Asp2161ThrfsX7 (D2161TfsX7) at the protein level. The normal sequence, with the base that is deleted in brackets, is AACA[A]GACA. The deletion causes a frameshift, which changes an Aspartic Acid to a Threonine at codon 2161, and creates a premature stop codon at position 7 of the new reading frame. Using alternate nomenclature, this variant would be defined as BRCA2 6708delA. 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 this variant to be pathogenic.
Ambry Genetics RCV000571083 SCV000673091 pathogenic Hereditary cancer-predisposing syndrome 2017-05-25 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)

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