ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8117A>G (p.Asn2706Ser) (rs80359055)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164845 SCV000215528 likely benign Hereditary cancer-predisposing syndrome 2017-12-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,Other strong data supporting benign classification,In silico models in agreement (benign)
Breast Cancer Information Core (BIC) (BRCA2) RCV000031721 SCV000147276 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000164845 SCV000902913 benign Hereditary cancer-predisposing syndrome 2017-03-27 criteria provided, single submitter clinical testing
Counsyl RCV000031721 SCV000785637 uncertain significance Breast-ovarian cancer, familial 2 2017-10-17 criteria provided, single submitter clinical testing
GeneDx RCV000424555 SCV000520978 likely benign not specified 2017-10-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000031721 SCV000746283 uncertain significance Breast-ovarian cancer, familial 2 2017-12-03 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588306 SCV000695129 uncertain significance not provided 2017-01-19 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.8117A>G (p.Asn2706Ser) variant located in the oligonucleotide/oligosaccharide-binding 1 domain (via InterPro) causes a missense change involving a non-conserved nucleotide, which 4/4 in silico tools (SNPs&GO not captured due to low reliability index) predict a benign outcome, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 12/121386 (1/10115), predominantly in the South Asian cohort, 10/16512 (1/1651), which does not exceed the estimated maximal expected allele frequency for a pathogenic BRCA2 variant of 1/1333. Multiple publications have cited the variant in affected individuals including 2 individuals that carried another pathogenic variant (1 - BRCA1 4476+2T>C and 1 - not indicated), suggesting a possible benign role. In addition, multiple clinical diagnostic laboratories classify the variant as "likely benign/benign." Therefore, the variant of interest has been classified as "Variant of Uncertain Significance - Possibly Benign."
Invitae RCV000045425 SCV000073438 benign Hereditary breast and ovarian cancer syndrome 2017-11-08 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000424555 SCV000600786 likely benign not specified 2016-10-13 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031721 SCV000054328 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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