ARID1B p.Pro256=
c.768C>G · rs968121954 · VCV2187883
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0151%, 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 1.1 | GERP 1.1, phastCons 0.98 |
| Overall | ||
| CADD | 12.4 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0151%
African / African-American · 10/66,022 alleles
Filtering AF
0.00813%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00616%
Overall
0.00071%
10/1,408,608 alleles · ultra-rare
exomes 3/1,258,276 · genomes 7/150,332 · joint denominator
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.Pro256=
- Coding
- c.768C>G
- MANE Select
- NM_001374828
- dbSNP
- rs968121954
- Type
- single nucleotide variant
- Location
- chr6:156778448 (GRCh38)
- Gene constraint
- LOEUF 0.205 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 47.16 · 9 PDB
- Residue 256
- the 'disordered' region
Similar variants
- 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
- ARID1B c.4479+1G>T Pathogenic ★★ same type
- ARID1B c.5264-2A>G Pathogenic/Likely 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-pro256 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown