ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.843+4C>T (rs4647506)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206886 SCV000261884 benign Fanconi anemia 2019-12-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224721 SCV000281296 likely benign not provided 2015-09-28 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001095298 SCV000481131 benign Fanconi anemia, complementation group C 2018-01-13 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Ambry Genetics RCV000568730 SCV000673291 benign Hereditary cancer-predisposing syndrome 2016-08-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000224721 SCV000695439 benign not provided 2016-04-29 criteria provided, single submitter clinical testing Variant summary: The FANCC c.843+4C>T variant affects a non-conserved intronic nucleotide. Mutation Taster predicts a damaging outcome for this intronic variant, but 5/5 Alamut algorithms predict no significant change to the splice donor site. However, this variant has not been evaluated for functional impact by in vivo/vitro studies. This variant was found in 504/121048 control chromosomes (6 homozygotes) at a frequency of 0.0041636. The variant is observed primarily in the African subpopulation at a frequency of 4.5%, which is about 25 times the maximal expected frequency of a pathogenic FANCC allele (0.0017678), strong evidence that this variant is benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories. In addition, a clinical laboratory classified this variant as benign. Taken together, this variant was classified as benign.

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.