ITGA8 p.Ser241=
c.723A>C · rs146907837 · VCV779932
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.125%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · T>A here scores Δ0.20 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -2.2 | GERP -2.1 |
| Overall | ||
| CADD | 6.361 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.125%
East Asian · 56/44,842 alleles
Filtering AF
0.0987%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0893%
Overall
0.00874%
141/1,613,744 alleles · rare
exomes 109/1,461,406 · genomes 32/152,338 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.125% | 801 |
| Remaining individualsnot grpmax-eligible | 0.0912% | 1,096 |
| African / African-American | 0.0267% | 3,752 |
| Admixed American | 0.005% | 19,985 |
| South Asian | 0.0011% | 91,014 |
| European (non-Finnish) | 0.000339% | 294,956 |
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
- ITGA8
- Protein
- p.Ser241=
- Coding
- c.723A>C
- MANE Select
- NM_003638
- dbSNP
- rs146907837
- Type
- single nucleotide variant
- Location
- chr10:15672703 (GRCh38)
- Gene constraint
- LOEUF 0.801 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.08
Similar variants
- ITGA8 p.Ser241Ter Likely pathogenic ★ same residue
- ITGA8 c.2982+2T>C Pathogenic/Likely pathogenic ★★ same type
- ITGA8 p.Arg938Ter Pathogenic ★★ same type
- ITGA8 p.Gln876Ter Likely pathogenic ★★ same type
- ITGA8 p.Ala552Thr Uncertain significance ★★ ⚠ same type
- ITGA8 p.Ala848Ser Uncertain significance ★★ ⚠ same type
- ITGA8 p.Arg588Gln Uncertain significance ★★ ⚠ same type
- ITGA8 p.Asn40Thr 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/itga8-p-ser241 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown