--- title: "ACTA2 A140V (c.419C>T, rs397516683) | Dante Labs" description: "ClinVar classifies ACTA2 A140V as Likely pathogenic (criteria provided, multiple submitters, no conflicts). Where it sits in the genome, its predicted effect, and the Genome Test reports that look at it." url: "https://dantelabs.com/genes/acta2/variants/a140v" --- 1. [Genes](https://dantelabs.com/genes) 2. [ACTA2](https://dantelabs.com/genes/acta2) 3. ACTA2 A140V Variant # ACTA2 A140V NM_001613.4(ACTA2):c.419C>T (p.Ala140Val) Also known as - p.A140V:GCG>GTG - p.Ala140Val - p.A140V - rs397516683 * ClinVar classification Likely pathogenic * Review status 2 stars out of 4 criteria provided, multiple submitters, no conflicts * Last evaluated 4 June 2025 Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bf Facts last changed 16 October 2026 ## Summary A140V is a missense variant in ACTA2: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as likely pathogenic for Familial Thoracic Aortic Aneurysm and Dissection (criteria provided, multiple submitters, no conflicts). ## ClinVar classifications | Condition | Classification | Review status | Submissions | Last evaluated | | ------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------- | ----------------- | --------------------------------------------------------------------- | ------------- | -------------- | | [Familial Thoracic Aortic Aneurysm and Dissection](https://dantelabs.com/conditions/aortic-aneurysm) [ClinVar VCV000044217 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/44217/) | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | 2 submissions | 4 June 2025 | Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed. ## Where it lies in ACTA2 A140V lies in exon 5 of the 9 in ACTA2's MANE Select transcript, NM_001613.4. [ACTA2 variants in exon 5 →](https://dantelabs.com/genes/acta2/variants?exon=5) [ACTA2's gene diagram →](https://dantelabs.com/genes/acta2#gene-structure) ## Molecular details | Gene | [ACTA2](https://dantelabs.com/genes/acta2) | | --------------------------- | ----------------------------------------------------------------------------------------------------------------------------------------------- | | Transcript | NM_001613.4 MANE Select | | Coding DNA change (HGVS c.) | c.419C>T | | Protein change (HGVS p.) | p.Ala140Val p.A140V | | Predicted consequence | Missense [missense_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001583) | | Predicted impact | Moderate | | Position (GRCh38) | chr10:88941820 G>A | | Position (GRCh37) | chr10:90701577 G>A | | dbSNP ID | [rs397516683 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs397516683) | | ClinVar Variation ID | [VCV000044217 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/44217/) | | ClinVar Allele ID | 53384 | | ClinGen Allele Registry ID | [CA006924 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA006924) | | ClinVar name | NM_001613.4(ACTA2):c.419C>T (p.Ala140Val) | | Other names | p.A140V:GCG>GTG | ## ACTA2 A140V in other databases - [ClinVar VCV000044217 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/44217/) - [dbSNP rs397516683 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs397516683) - [ClinGen Allele Registry CA006924 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA006924) - [gnomAD 10-88941820-G-A (opens in a new tab)](https://gnomad.broadinstitute.org/variant/10-88941820-G-A?dataset=gnomad_r4) - [Ensembl rs397516683 (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Variation/Explore?v=rs397516683) ## Reports that look at this variant (1) These Genome Test condition reports include A140V among the variants they look at. | Report | Conditions | Inheritance | | ------------------------------------------------------------------- | ------------------------------------------------ | ------------------ | | [Aortic Aneurysm](https://dantelabs.com/conditions/aortic-aneurysm) | Familial Thoracic Aortic Aneurysm and Dissection | Autosomal dominant | ## Other variants in ACTA2 - [G270R Pathogenic/likely pathogenic 2 stars out of 4](https://dantelabs.com/genes/acta2/variants/g270r) - [R39C Pathogenic 2 stars out of 4](https://dantelabs.com/genes/acta2/variants/r39c) - [R39H Pathogenic 2 stars out of 4](https://dantelabs.com/genes/acta2/variants/r39h) - [R118Q Pathogenic 2 stars out of 4](https://dantelabs.com/genes/acta2/variants/r118q) - [R118W Pathogenic/likely pathogenic 2 stars out of 4](https://dantelabs.com/genes/acta2/variants/r118w) - [R149C Pathogenic 2 stars out of 4](https://dantelabs.com/genes/acta2/variants/r149c) - [R179C Pathogenic 2 stars out of 4](https://dantelabs.com/genes/acta2/variants/r179c) - [R179H Pathogenic 2 stars out of 4](https://dantelabs.com/genes/acta2/variants/r179h) - [R198C Likely pathogenic 2 stars out of 4](https://dantelabs.com/genes/acta2/variants/r198c) - [R198H Pathogenic/likely pathogenic 2 stars out of 4](https://dantelabs.com/genes/acta2/variants/r198h) [All ACTA2 variants](https://dantelabs.com/genes/acta2/variants) ## Limitations This page describes publicly available information about a genetic variant. It is not a diagnosis, and it says nothing about whether you or anyone else carries this variant. Classifications come from ClinVar and change as new evidence is reviewed. A classification here may differ from the one in ClinVar today, or from the one a laboratory reports. Whole genome sequencing with short reads can miss or miscall some variants, particularly in repeated or highly similar stretches of DNA and in large insertions, deletions or rearrangements. If you have questions about a variant in your own results or in your family, talk to a genetic counsellor or your doctor. ## Sources & credits - Classifications from ClinVar (release 2026-10-12), National Center for Biotechnology Information. - Condition terms from the Mondo Disease Ontology (release 2026-10-06), used under CC BY 4.0. - Gene symbols and names from the HUGO Gene Nomenclature Committee (release 2026-10-16). - Allele identifiers from the ClinGen Allele Registry (release 2026-10-16-c4908f54). - Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information. - Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-16). - Difficult regions from the Genome in a Bottle Consortium (release v3.6). - Transcripts from MANE (release v1.5), NCBI and EMBL-EBI. - Predicted consequences from mehari (release 0.11.0), with transcript models from cdot. - Built from Dante Labs data release 2026.10.16-c6eea6bf of 16 October 2026. ## Cite this page APA > Dante Labs. (16 October 2026). ACTA2 A140V (c.419C>T, rs397516683) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https\://dantelabs.com/genes/acta2/variants/a140v Vancouver > Dante Labs. ACTA2 A140V (c.419C>T, rs397516683) \[Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 \[cited 17 October 2026]. Available from: https\://dantelabs.com/genes/acta2/variants/a140v Download citation [RIS](https://dantelabs.com/genes/acta2/variants/a140v/cite.ris) [BibTeX](https://dantelabs.com/genes/acta2/variants/a140v/cite.bib) [CSL-JSON](https://dantelabs.com/genes/acta2/variants/a140v/cite.json) ## Read your whole genome From $449 Free shipping · Results in 6–8 weeks [Explore the Genome Test](https://dantelabs.com/whole-genome-sequencing)