ITPR1 p.Ala911=
c.2733G>A · rs562572079 · VCV447582
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0783%, sas)
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 -9.1 | GERP -3.8 |
| Overall | ||
| CADD | 3.362 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0783%
South Asian · 71/90,672 alleles
Filtering AF
0.0636%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0583%
Overall
0.00676%
109/1,612,624 alleles · ultra-rare
exomes 94/1,460,320 · genomes 15/152,304 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0783% | 1,277 |
| East Asian | 0.0223% | 4,483 |
| Remaining individualsnot grpmax-eligible | 0.00801% | 12,489 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,584 |
| Admixed American | 0.00335% | 29,894 |
| European (non-Finnish) | 0.0017% | 58,969 |
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
- ITPR1
- Protein
- p.Ala911=
- Coding
- c.2733G>A
- MANE Select
- NM_001378452
- dbSNP
- rs562572079
- Type
- single nucleotide variant
- Location
- chr3:4675202 (GRCh38)
- Gene constraint
- LOEUF 0.325 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
Similar variants
- ITPR1 p.Ala911Val Conflicting classifications of pathogenicity ★ ⚠ same residue
- ITPR1 c.1252-1G>C Pathogenic/Likely pathogenic ★★ same type
- ITPR1 c.1252-1G>T Pathogenic/Likely pathogenic ★★ same type
- ITPR1 p.Arg241Lys Pathogenic/Likely pathogenic ★★ same type
- ITPR1 p.Arg269Leu Pathogenic/Likely pathogenic ★★ same type
- ITPR1 p.Arg269Trp Pathogenic/Likely pathogenic ★★ same type
- ITPR1 p.Arg504Gly Likely pathogenic ★★ same type
- ITPR1 p.Arg506Trp 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/itpr1-p-ala911 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown