ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2692_2696del (p.Glu897_Arg898insTer) (rs398122752)

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Total submissions: 4
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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) RCV000077692 SCV000300551 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 RCV000160272 SCV000210723 pathogenic not provided 2017-07-03 criteria provided, single submitter clinical testing This deletion of five nucleotides is denoted BRCA2 c.2692_2696delAGGAA at the cDNA level and p.Arg898Ter (R898X) at the protein level. The normal sequence, with the bases that are deleted in brackets, is TGAA[delAGGAA]TAAT. The deletion creates a nonsense variant, which changes an Arginine to a premature stop codon. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA2 c.2692_2696delAGGAA, also known as BRCA2 2920_2924delAGGAA using alternate nomenclature, has been observed in at least one individual with breast cancer undergoing multigene panel testing (Susswein 2016). This variant is considered pathogenic.
Invitae RCV000801024 SCV000940776 pathogenic Hereditary breast and ovarian cancer syndrome 2018-11-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg898*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with breast cancer (PMID: 91784). ClinVar contains an entry for this variant (Variation ID: 91784). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000077692 SCV000109495 pathogenic Breast-ovarian cancer, familial 2 2013-03-04 no assertion criteria provided clinical testing

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