ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4211del (p.Thr1403_Ser1404insTer) (rs398122777)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000509746 SCV000608244 pathogenic Hereditary cancer-predisposing syndrome 2018-02-13 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 RCV000509746 SCV000683604 pathogenic Hereditary cancer-predisposing syndrome 2017-05-11 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077723 SCV000326990 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077723 SCV000300721 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 RCV000478663 SCV000567997 pathogenic not provided 2016-08-30 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.4211delC at the cDNA level and p.Ser1404Ter (S1404X) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 4439delC. The normal sequence, with the base that is deleted in brackets, is ACTT[delC]AAAT. The deletion creates a nonsense variant, which changes a Serine to a premature stop codon. 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 RCV000462802 SCV000549886 pathogenic Hereditary breast and ovarian cancer syndrome 2018-12-13 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotides from exon 11 of the BRCA2 mRNA (c.4211delC), causing a frameshift at codon 1404. This creates a premature translational stop signal (p.Ser1404*) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating 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 RCV000462802 SCV000587703 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000077723 SCV000109526 pathogenic Breast-ovarian cancer, familial 2 2010-11-18 no assertion criteria provided clinical testing

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