GRM8 p.Ser129=
c.387G>A · rs781101693 · VCV762385
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.005%, amr)
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 -20 | GERP -3.8 |
| Overall | ||
| CADD | 0.069 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.005%
Admixed American · 3/59,996 alleles
Filtering AF
0.00133%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000668%
Overall
0.000929%
15/1,613,956 alleles · very rare
exomes 14/1,461,890 · genomes 1/152,066 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.005% | 19,999 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,242 |
| South Asian | 0.0011% | 91,082 |
| European (non-Finnish) | 0.000763% | 131,113 |
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.Ser129=
- Coding
- c.387G>A
- MANE Select
- NM_000845
- dbSNP
- rs781101693
- Type
- single nucleotide variant
- Location
- chr7:127242818 (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-ser129 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown