ClinVar Miner

Submissions for variant NM_003184.4(TAF2):c.157A>G (p.Ile53Val)

gnomAD frequency: 0.00117  dbSNP: rs112002462
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000502851 SCV000597391 uncertain significance not specified 2016-08-22 criteria provided, single submitter clinical testing
Invitae RCV000954119 SCV001100730 likely benign not provided 2021-11-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV001336547 SCV001529953 uncertain significance Microcephaly-thin corpus callosum-intellectual disability syndrome 2018-04-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001336547 SCV002010022 uncertain significance Microcephaly-thin corpus callosum-intellectual disability syndrome 2021-11-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000502851 SCV002555898 likely benign not specified 2022-06-15 criteria provided, single submitter clinical testing Variant summary: TAF2 c.157A>G (p.Ile53Val) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.001 in 247548 control chromosomes in the gnomAD database, predominantly within the Non-Finnish European subpopulation at a frequency of 0.0018, including 1 homozygote. To our knowledge, no occurrence of c.157A>G in individuals affected with Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Four submitters have provided clinical-significance assessments for this variant in ClinVar after 2014 without evidence for independent evaluation, and classified the variant as VUS (n=3) or likely benign (n=1). Based on the evidence outlined above, the variant was classified as likely benign.

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