Variants in gene ACTA2 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status:		Submission 2 (likely benign) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001613.4(ACTA2):c.174C>T (p.Asp58=)	rs150547139	0.00015
NM_001613.4(ACTA2):c.201G>C (p.Leu67=)	rs199773697	0.00010
NM_001613.4(ACTA2):c.420G>A (p.Ala140=)	rs762567614	0.00004
NM_001613.4(ACTA2):c.390T>C (p.Asn130=)	rs141933412	0.00003
NM_001613.4(ACTA2):c.808+14G>A	rs774120023	0.00001
NM_001613.4(ACTA2):c.399C>G (p.Ala133=)	rs781132665
NM_001613.4(ACTA2):c.456C>T (p.Gly152=)	rs1845848773
NM_001613.4(ACTA2):c.645G>A (p.Lys215=)	rs1053760032

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.