ATOH7 p.Arg34=
c.102G>C · rs749672176 · VCV1643175
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.016%, 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 -1 | GERP -5.3, phastCons 0.002 |
| Overall | ||
| CADD | 10.43 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.016%
African / African-American · 10/62,634 alleles
Filtering AF
0.00864%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00656%
Overall
0.00108%
13/1,201,242 alleles · ultra-rare
exomes 3/1,052,190 · genomes 10/149,052 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.016% | 6,263 |
| Admixed American | 0.00907% | 11,022 |
| Remaining individualsnot grpmax-eligible | 0.00232% | 43,014 |
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
- ATOH7
- Protein
- p.Arg34=
- Coding
- c.102G>C
- MANE Select
- NM_145178
- dbSNP
- rs749672176
- Type
- single nucleotide variant
- Location
- chr10:68231576 (GRCh38)
- Gene constraint
- LOEUF 1.758 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 72.79
Similar variants
- ATOH7 p.Arg34Leu Uncertain significance ★ ⚠ same residue
- ATOH7 p.Arg34Trp Uncertain significance ★ ⚠ same residue
- ATOH7 p.Ala20Gly Uncertain significance ★★ ⚠ same type
- ATOH7 p.Ala20Thr Uncertain significance ★★ ⚠ same type
- ATOH7 p.Ala44Glu Uncertain significance ★★ ⚠ same type
- ATOH7 p.Ala59Val Uncertain significance ★★ ⚠ same type
- ATOH7 p.Arg62Ser Uncertain significance ★★ ⚠ same type
- ATOH7 p.Arg94Trp 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/atoh7-p-arg34 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown