GRM8 p.Ala665=
c.1995C>T · rs148780156 · VCV722343
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.247%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.41 | GERP -5.7, phastCons 0.007 |
| Overall | ||
| CADD | 5.367 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.247%
East Asian · 111/44,850 alleles
Filtering AF
0.21%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.196%
Overall
0.00737%
119/1,613,898 alleles · rare
exomes 99/1,461,824 · genomes 20/152,074 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.247% | 404 |
| Remaining individualsnot grpmax-eligible | 0.008% | 12,500 |
| Finnishnot grpmax-eligible | 0.00469% | 21,333 |
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
- GRM8
- Protein
- p.Ala665=
- Coding
- c.1995C>T
- MANE Select
- NM_000845
- dbSNP
- rs148780156
- Type
- single nucleotide variant
- Location
- chr7:126533387 (GRCh38)
- Gene constraint
- LOEUF 0.687 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.11 · 10 PDB
Similar variants
- GRM8 c.1495-9T>C Benign ★★ same type
- GRM8 p.Arg561= Benign ★★ same type
- GRM8 p.Gly231= Benign ★★ same type
- GRM8 p.His32Gln Benign ★★ same type
- GRM8 p.Ile265Thr Benign ★★ same type
- GRM8 p.Ile488= Benign ★★ same type
- GRM8 p.Phe119= Benign ★★ same type
- GRM8 p.Phe21Cys Benign ★★ 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/grm8-p-ala665 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown