ARID1B p.Pro327=
c.981C>T · rs1447701398 · VCV2735057
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0185%, mid)
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 2.6 | GERP 0.99, phastCons 1 |
| Overall | ||
| CADD | 14.27 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0185%
Middle Eastern · 1/5,398 alleles
Filtering AF
0.00702%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00651%
Overall
0.00672%
100/1,487,440 alleles · ultra-rare
exomes 93/1,338,654 · genomes 7/148,786 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0185% | 5,398 |
| European (non-Finnish) | 0.00842% | 11,882 |
| Remaining individualsnot grpmax-eligible | 0.00525% | 19,031 |
| African / African-American | 0.00291% | 34,344 |
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.Pro327=
- Coding
- c.981C>T
- MANE Select
- NM_001374828
- dbSNP
- rs1447701398
- Type
- single nucleotide variant
- Location
- chr6:156778661 (GRCh38)
- Gene constraint
- LOEUF 0.205 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 47.16 · 9 PDB
- Residue 327
- the 'disordered' region
Similar variants
- ARID1B p.Pro327Arg Conflicting classifications of pathogenicity ★ ⚠ same residue
- ARID1B p.Pro327Ser Uncertain significance ★ ⚠ same residue
- ARID1B c.1987-29738G>T Pathogenic ★★ same type
- ARID1B c.2248-2A>G Pathogenic/Likely pathogenic ★★ same type
- ARID1B c.2762-1G>C Likely pathogenic ★★ same type
- ARID1B c.3505-2A>G Pathogenic ★★ same type
- ARID1B c.4058+1G>C Pathogenic ★★ same type
- ARID1B c.4383-1G>A Pathogenic ★★ 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/arid1b-p-pro327 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown