Variant
ACTA2 R258C
NM_001613.4(ACTA2):c.772C>T (p.Arg258Cys)
- p.Arg258Cys
- p.R258C
- rs121434528
- ClinVar classification
- Pathogenic
- Review status
- 2 stars out of 4criteria provided, multiple submitters, no conflicts
- Last evaluated
- 19 December 2025
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
Reference genomeGRCh38hg38
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Summary
R258C is a missense variant in ACTA2: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic for aortic aneurysm, familial thoracic 6 (criteria provided, multiple submitters, no conflicts). ClinVar also lists it under 1 more condition.
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| aortic aneurysm, familial thoracic 6ClinVar VCV000018278 (opens in a new tab) | Pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 2 submissions | 19 December 2025 |
| Familial Thoracic Aortic Aneurysm and DissectionClinVar VCV000018278 (opens in a new tab) | Pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 4 submissions | 10 September 2024 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in ACTA2
R258C lies in exon 7 of the 9 in ACTA2's MANE Select transcript, NM_001613.4.
Molecular details
| Gene | ACTA2 |
|---|---|
| Transcript | NM_001613.4MANE Select |
| Coding DNA change (HGVS c.) | c.772C>T |
| Protein change (HGVS p.) | p.Arg258Cysp.R258C |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr10:88939543 G>A |
| Position (GRCh37) | chr10:90699300 G>A |
| dbSNP ID | rs121434528 (opens in a new tab) |
| ClinVar Variation ID | VCV000018278 (opens in a new tab) |
| ClinVar Allele ID | 33317 |
| ClinGen Allele Registry ID | CA007017 (opens in a new tab) |
| ClinVar name | NM_001613.4(ACTA2):c.772C>T (p.Arg258Cys) |
ACTA2 R258C in other databases
Reports that look at this variant (1)
These Genome Test condition reports include R258C among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Aortic Aneurysm | Familial Thoracic Aortic Aneurysm and Dissection | Autosomal dominant |
| Multisystemic Smooth Muscle Dysfunction Syndrome | Autosomal dominant |
Other variants in ACTA2
- A140VLikely pathogenic2 stars out of 4
- G270RPathogenic/likely pathogenic2 stars out of 4
- R39CPathogenic2 stars out of 4
- R39HPathogenic2 stars out of 4
- R118QPathogenic2 stars out of 4
- R118WPathogenic/likely pathogenic2 stars out of 4
- R149CPathogenic2 stars out of 4
- R179CPathogenic2 stars out of 4
- R179HPathogenic2 stars out of 4
- R198CLikely pathogenic2 stars out of 4
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
Dante Labs. (16 October 2026). ACTA2 R258C (c.772C>T, rs121434528) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https://dantelabs.com/genes/acta2/variants/r258c
Dante Labs. ACTA2 R258C (c.772C>T, rs121434528) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 17 October 2026]. Available from: https://dantelabs.com/genes/acta2/variants/r258c
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