ITGA8 p.Ser280=
c.840T>C · rs151036773 · VCV790274
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
rare (popmax 0.158%, nfe)
Conditions
2
Inborn genetic diseases
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 3.3 | GERP -0.63, phastCons 1 |
| Overall | ||
| CADD | 7.448 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.158%
European (non-Finnish) · 1,867/1,178,748 alleles
Filtering AF
0.152%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.15%
Overall
0.124%
2,001/1,612,626 alleles · rare
exomes 1,878/1,460,348 · genomes 123/152,278 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.158% | 631 |
| Remaining individualsnot grpmax-eligible | 0.0673% | 1,487 |
| South Asian | 0.0571% | 1,750 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0338% | 2,959 |
| Middle Eastern | 0.033% | 3,028 |
| Finnishnot grpmax-eligible | 0.0156% | 6,401 |
| Admixed American | 0.015% | 6,667 |
| African / African-American | 0.0107% | 9,376 |
| East Asian | 0.00223% | 44,826 |
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.Ser280=
- Coding
- c.840T>C
- MANE Select
- NM_003638
- dbSNP
- rs151036773
- Type
- single nucleotide variant
- Location
- chr10:15671610 (GRCh38)
- Gene constraint
- LOEUF 0.801 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.08
Similar variants
- ITGA8 c.2982+2T>C Pathogenic/Likely pathogenic ★★ same condition
- ITGA8 p.Arg938Ter Pathogenic ★★ same condition
- ITGA8 p.Gln876Ter Likely pathogenic ★★ same condition
- ITGA8 p.Ala848Ser Uncertain significance ★★ ⚠ same condition
- ITGA8 p.Arg588Gln Uncertain significance ★★ ⚠ same condition
- ITGA8 p.Asn40Thr Uncertain significance ★★ ⚠ same condition
- ITGA8 p.Glu815Asp Uncertain significance ★★ ⚠ same condition
- ITGA8 p.Gly387Ser Uncertain significance ★★ ⚠ 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/itga8-p-ser280 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown