ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3201del (p.Val1068fs) (rs864622672)

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Total submissions: 6
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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) RCV000238697 SCV000300603 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000206548 SCV000261719 pathogenic Hereditary breast and ovarian cancer syndrome 2015-10-29 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 11 of the BRCA2 mRNA (c.3201delT), causing a frameshift at codon 1068. This creates a premature translational stop signal (p.Val1068Tyrfs*9) 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.
Ambry Genetics RCV000221184 SCV000277081 pathogenic Hereditary cancer-predisposing syndrome 2015-07-02 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000657338 SCV000779070 pathogenic not provided 2017-06-12 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.3201delT at the cDNA level and p.Val1068TyrfsX9 (V1068YfsX9) at the protein level. The normal sequence, with the base that is deleted in brackets, is ATAC[delT]GTAT. The deletion causes a frameshift which changes a Valine to a Tyrosine at codon 1068, and creates a premature stop codon at position 9 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this specific variant has not, to our knowledge, been reported in the literature, a nearby variant resulting in the same frameshift has been reported in an individual at high-risk for breast and/or ovarian cancer (Kwong 2012). Based on currently available information, we consider this variant to be pathogenic.
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000238697 SCV000993557 pathogenic Breast-ovarian cancer, familial 2 2018-09-27 criteria provided, single submitter research
Sharing Clinical Reports Project (SCRP) RCV000238697 SCV000297518 pathogenic Breast-ovarian cancer, familial 2 2013-01-15 no assertion criteria provided clinical testing

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