ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6331_6332del (p.Lys2111fs) (rs587781470)

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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 RCV000129412 SCV000184182 pathogenic Hereditary cancer-predisposing syndrome 2017-04-13 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)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000225411 SCV000327396 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) RCV000225411 SCV000282423 pathogenic Breast-ovarian cancer, familial 2 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000484123 SCV000567724 pathogenic not provided 2015-08-24 criteria provided, single submitter clinical testing This deletion of 2 nucleotides in BRCA2 is denoted c.6331_6332delAA at the cDNA level and p.Lys2111GlufsX17 (K2111EfsX17) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 6559_6560delAA. The normal sequence, with the bases that are deleted in braces, is TGAT[AA]GAGA. The deletion causes a frameshift, which changes a Lysine to a Glutamic Acid at codon 2111, and creates a premature stop codon at position 17 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 RCV000698191 SCV000826840 pathogenic Hereditary breast and ovarian cancer syndrome 2018-04-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys2111Glufs*17) 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 individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 141068). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.

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