ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln)

gnomAD frequency: 0.00592  dbSNP: rs61729366
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000179644 SCV000231924 benign not specified 2015-01-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000315339 SCV000451296 likely benign Fraser syndrome 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genetic Services Laboratory,University of Chicago RCV000179644 SCV000594881 likely benign not specified 2016-09-14 criteria provided, single submitter clinical testing
Invitae RCV000872220 SCV001014005 benign not provided 2021-12-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000872220 SCV001502463 likely benign not provided 2020-11-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000179644 SCV002555803 benign not specified 2022-06-09 criteria provided, single submitter clinical testing Variant summary: FRAS1 c.9806G>A (p.Arg3269Gln) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0052 in 246530 control chromosomes (gnomAD), predominantly at a frequency of 0.0093 within the Non-Finnish European subpopulation in the gnomAD database, including 8 homozygotes. The observed variant frequency within Non-Finnish European control individuals in the gnomAD database is approximately 5 fold of the estimated maximal expected allele frequency for a pathogenic variant in FRAS1 causing Cryptophthalmos Syndrome (0.0018), strongly suggesting that the variant is a benign polymorphism found primarily in populations of Non-Finnish European origin. Five ClinVar submitters have assessed the variant since 2014: three classified the variant as likely benign, and two as benign. Based on the evidence outlined above, the variant was classified as benign.
Daryl Scott Lab,Baylor College of Medicine RCV000577951 SCV000484668 risk factor Congenital diaphragmatic hernia 2016-11-09 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000315339 SCV000734360 likely benign Fraser syndrome 1 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000872220 SCV001798770 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000179644 SCV001929395 benign not specified no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.