ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3672C>T (p.Gly1224=) (rs587780650)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755870 SCV000883500 likely benign not provided 2018-02-01 criteria provided, single submitter clinical testing The BRCA2 c.3672C>T; p.Gly1224Gly variant (rs587780650), to our knowledge, is not reported in the medical literature but is reported as likely benign by multiple labs in ClinVar (Variation ID: 135797). Additionally, another variant at this nucleotide position (c.3672C>G; p.Gly1224Gly) has also been reported as likely benign to ClinVar (Variation ID: 481605). The c.3672C>T variant is found in the general population at an overall frequency of 0.003% (1/30934 alleles) in the Genome Aggregation Database. This is a synonymous change, the nucleotide is weakly conserved, and computational algorithms (SpliceSiteFinder-like, MaxEntScan, NNSplice, GeneSplicer, Human Splicing Finder) do not predict that this variant impacts splicing. Based on the above information, this variant is considered likely benign.
Ambry Genetics RCV000164840 SCV000215523 likely benign Hereditary cancer-predisposing syndrome 2014-06-20 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770720 SCV000902199 likely benign Breast and/or ovarian cancer 2017-08-25 criteria provided, single submitter clinical testing
Color RCV000164840 SCV000683570 likely benign Hereditary cancer-predisposing syndrome 2015-07-24 criteria provided, single submitter clinical testing
Counsyl RCV000495475 SCV000785874 likely benign Breast-ovarian cancer, familial 2 2017-12-21 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495475 SCV000578734 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/).
Integrated Genetics/Laboratory Corporation of America RCV000507541 SCV000918880 uncertain significance not specified 2018-03-28 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.3672C>T alters a non-conserved nucleotide resulting in a synonymous change. 3/5 in silico splicing prediction tools predict no significant impact on splicing. The variant allele was found at a frequency of 3.2e-05 in 30934 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.3672C>T in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000122908 SCV000166166 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507541 SCV000600559 likely benign not specified 2017-03-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000755870 SCV000889024 likely benign not provided 2018-05-11 criteria provided, single submitter clinical testing

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