ARMC9 p.Ser798=
c.2394C>T · rs2470033379 · VCV3032769
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,534,594)
Conditions
1
ARMC9-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.5 | GERP -0.83, phastCons 0.86 |
| Overall | ||
| CADD | 6.411 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,534,594). 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
- ARMC9
- Protein
- p.Ser798=
- Coding
- c.2394C>T
- MANE Select
- NM_001352754
- dbSNP
- rs2470033379
- Type
- single nucleotide variant
- Location
- chr2:231370085 (GRCh38)
- Gene constraint
- LOEUF 0.975 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 71.71
- Residue 798
- the 'disordered' region
Disease context
ARMC9-related disorder
Similar variants
- ARMC9 c.1773+1G>A Likely pathogenic ★★ same condition
- ARMC9 c.178-1G>A Likely pathogenic ★★ same condition
- ARMC9 p.Arg299Ter Pathogenic/Likely pathogenic ★★ same condition
- ARMC9 p.Arg343Cys Pathogenic/Likely pathogenic ★★ same condition
- ARMC9 p.Arg87Ter Pathogenic/Likely pathogenic ★★ same condition
- ARMC9 c.1027-1G>C Likely pathogenic ★ same condition
- ARMC9 c.880-2A>G Likely pathogenic ★ same condition
- ARMC9 c.915-1G>C Likely pathogenic ★ same condition
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/armc9-p-ser798 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown