ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6638-2A>C (rs886039200)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000241996 SCV000320609 likely pathogenic Cardiovascular phenotype 2015-12-21 criteria provided, single submitter clinical testing Thec.6638-2A>Cintronic variant results from an A to C substitution two nucleotides upstream from codingexon53 in theFBN2gene. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP),NHLBIExome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This nucleotide position is highly conserved in available vertebrate species. Using theBDGPandESEfindersplice site prediction tools, this alteration is predicted toabolish the native splice acceptor site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice acceptor site are typically deleterious in nature (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007.Genet Med. 2008;10:294). As such, the c.6638-2A>C variant is classified as likely pathogenic.

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.