ALMS1 p.Arg767=
c.2301A>G · rs1271740449 · VCV2626207
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.000339%, nfe)
Conditions
1
Cardiovascular phenotype
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 0.37 | GERP -3.1 |
| Overall | ||
| CADD | 1.962 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000339%
European (non-Finnish) · 4/1,179,954 alleles
Filtering AF
7.9e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 5.4e-05%
Overall
0.000248%
4/1,613,808 alleles · very rare
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- ALMS1
- Protein
- p.Arg767=
- Coding
- c.2301A>G
- MANE Select
- NM_001378454
- dbSNP
- rs1271740449
- Type
- single nucleotide variant
- Location
- chr2:73448828 (GRCh38)
- Gene constraint
- LOEUF 0.825 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Residue 767
- the '34 x 47 aa approximate tandem repeat' region; the 'disordered' region
Similar variants
- ALMS1 p.Arg767Lys Uncertain significance ★ ⚠ same residue
- ALMS1 c.10214-2A>G Likely pathogenic ★★ same condition
- ALMS1 c.12114+1G>A Likely pathogenic ★★ same condition
- ALMS1 c.12299-2A>G Pathogenic/Likely pathogenic ★★ same condition
- ALMS1 c.1432+1G>T Likely pathogenic ★★ same condition
- ALMS1 c.451-2A>G Likely pathogenic ★★ same condition
- ALMS1 p.Arg1818Ter Pathogenic/Likely pathogenic ★★ same condition
- ALMS1 p.Arg2145Ter 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/alms1-p-arg767 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown