ARID1B p.Pro231=
c.693T>G · rs370106545 · VCV1740699
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0491%, sas)
Conditions
1
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 -0.46 | GERP -0.12, phastCons 0.34 |
| Overall | ||
| CADD | 14.13 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0491%
South Asian · 41/83,564 alleles
Filtering AF
0.0371%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.033%
Overall
0.00281%
43/1,531,280 alleles · ultra-rare
exomes 40/1,387,066 · genomes 3/144,214 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0491% | 2,038 |
| Remaining individualsnot grpmax-eligible | 0.00334% | 29,930 |
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
- ARID1B
- Protein
- p.Pro231=
- Coding
- c.693T>G
- MANE Select
- NM_001374828
- dbSNP
- rs370106545
- Type
- single nucleotide variant
- Location
- chr6:156778373 (GRCh38)
- Gene constraint
- LOEUF 0.205 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 47.16 · 9 PDB
- Residue 231
- the 'disordered' region
Similar variants
- ARID1B c.1987-29738G>T Pathogenic ★★ same condition
- ARID1B p.Arg1925Ter Pathogenic ★★ same condition
- ARID1B p.Arg2049Ter Pathogenic/Likely pathogenic ★★ same condition
- ARID1B p.Arg2251Ter Pathogenic ★★ same condition
- ARID1B p.Gln1302Ter Pathogenic ★★ same condition
- ARID1B p.Gln2061Ter Pathogenic ★★ same condition
- ARID1B p.Gln597Ter Pathogenic/Likely pathogenic ★★ same condition
- ARID1B p.Gln621Ter 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/arid1b-p-pro231 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown