ARC p.Ala179=
c.537C>T · rs375694513 · VCV785271
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.508%, afr)
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 -4.1 | GERP -3.5 |
| Overall | ||
| CADD | 0.455 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.508%
African / African-American · 375/73,754 alleles
Filtering AF
0.466%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.449%
Overall
0.0272%
421/1,549,032 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.508% | 197 |
| Remaining individualsnot grpmax-eligible | 0.0382% | 2,617 |
| Admixed American | 0.0355% | 2,820 |
| European (non-Finnish) | 0.000347% | 287,784 |
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
- ARC
- Protein
- p.Ala179=
- Coding
- c.537C>T
- MANE Select
- NM_015193
- dbSNP
- rs375694513
- Type
- single nucleotide variant
- Location
- chr8:142613735 (GRCh38)
- Gene constraint
- LOEUF 1.393 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 66.72 · 11 PDB
Similar variants
- ARC c.*258C>T Benign ★★ same type
- ARC p.Ala144Ser Uncertain significance ★ ⚠ same type
- ARC p.Arg107Cys Uncertain significance ★ ⚠ same type
- ARC p.Arg129His Uncertain significance ★ ⚠ same type
- ARC p.Arg304His Uncertain significance ★ ⚠ same type
- ARC p.Arg335Cys Uncertain significance ★ ⚠ same type
- ARC p.Arg392Gln Uncertain significance ★ ⚠ same type
- ARC p.Asp307Glu Uncertain significance ★ ⚠ same type
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/arc-p-ala179 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown