ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2570dup (p.Arg858fs) (rs587782361)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131317 SCV000186290 pathogenic Hereditary cancer-predisposing syndrome 2018-03-20 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)
Color RCV000131317 SCV000905179 pathogenic Hereditary cancer-predisposing syndrome 2018-05-21 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000241017 SCV000300531 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 RCV000274423 SCV000329606 pathogenic not provided 2016-02-22 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA2 is denoted c.2570dupT at the cDNA level and p.Arg858LysfsX23 (R858KfsX23) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 2798dupT. The normal sequence, with the base that is duplicated in brackets, is AATC[T]AAGA. The duplication causes a frameshift, which changes an Arginine to a Lysine at codon 858, and creates a premature stop codon at position 23 of the new reading frame. 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.
Invitae RCV000496214 SCV000836805 pathogenic Hereditary breast and ovarian cancer syndrome 2018-02-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg858Lysfs*23) 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 reported in an individual affected with breast cancer (PMID: 28724667). ClinVar contains an entry for this variant (Variation ID: 142288). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496214 SCV000587635 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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