Is ACTA2 p.Lys317del (c.949_951del) pathogenic?

ACTA2 p.Lys317del (c.949951del) is classified Uncertain significance in ACTA2 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-10-03). No gnomAD frequency available for this variant; Associated with aortic aneurysm, familial thoracic 6.

What condition is associated with ACTA2 p.Lys317del (c.949_951del)?

ACTA2 p.Lys317del (c.949_951del) is associated with aortic aneurysm, familial thoracic 6 (ClinVar).

How common is ACTA2 p.Lys317del (c.949_951del) in the general population?

ACTA2 p.Lys317del (c.949_951del) is no gnomAD frequency available for this variant (gnomAD).

ACTA2 p.Lys317del

Q: How is Multisystemic smooth muscle dysfunction syndrome inherited?

Typically Unknown (Orphanet). A genetic counselor can assess individual risk for a family.

c.949_951del · rs2494518848 · VCV2748635

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

aortic aneurysm, familial thoracic 6

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 5.9	GERP 2, phastCons 1

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: ACTA2
Protein: p.Lys317del
Coding: c.949_951del
dbSNP: rs2494518848
Type: Deletion
Location: chr10:88938100 (GRCh38)

Full ACTA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

aortic aneurysm, familial thoracic 6 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Multisystemic smooth muscle dysfunction syndrome (Orphanet):

Inheritance: Unknown
Onset: Infancy

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/acta2-p-lys317del (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown