ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6921A>G (p.Ser2307=) (rs181183366)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000589859 SCV000883496 likely benign not provided 2018-01-16 criteria provided, single submitter clinical testing The BRCA2 c.6921A>G; p.Ser2307Ser variant (rs181183366) is reported in the medical literature in an individual with breast cancer (Borg 2010), but is also reported as benign or likely benign in the ClinVar database (Variation ID: 182293). The variant is listed in the Genome Aggregation Database in 15 out of 276360 alleles. This is a silent variant, the nucleotide at this position is weakly conserved across species, and computational algorithms predict this variant does not alter mRNA splicing. Considering available information, this variant is classified as likely benign. References: Borg A et al. Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. Hum Mutat. 2010 Mar;31(3):E1200-40.
Ambry Genetics RCV000163368 SCV000213906 likely benign Hereditary cancer-predisposing syndrome 2014-10-14 criteria provided, single submitter clinical testing
Color RCV000163368 SCV000683827 likely benign Hereditary cancer-predisposing syndrome 2016-04-08 criteria provided, single submitter clinical testing
Counsyl RCV000409129 SCV000489320 likely benign Breast-ovarian cancer, familial 2 2016-09-19 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000409129 SCV000579101 likely benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
GeneDx RCV000160238 SCV000210639 benign not specified 2014-09-19 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.
Illumina Clinical Services Laboratory,Illumina RCV000196553 SCV000383750 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377750 SCV000383751 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589859 SCV000695007 likely benign not provided 2017-04-24 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.6921A>G (p.Ser2307Ser) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 2/116362 control chromosomes at a frequency of 0.0000172, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). This variant has been reported in a BrC patient without strong evidence for causality. In addition, five out of 6 clinical diagnostic laboratories/reputable databases classified this variant as likely benign and one lab classified it as benign, all without evidence for independent evaluation. Taken together, this variant is classified as Likely Benign.
Invitae RCV000196553 SCV000253032 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-20 criteria provided, single submitter clinical testing
PreventionGenetics RCV000589859 SCV000805752 likely benign not provided 2017-08-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000160238 SCV000600723 likely benign not specified 2017-07-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589859 SCV000889114 likely benign not provided 2018-07-13 criteria provided, single submitter clinical testing

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