GRM8 p.Arg561=
c.1681A>C · rs61753364 · VCV770743
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.47%, nfe)
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 5.1 | GERP 1.7, phastCons 1 |
| Overall | ||
| CADD | 18.55 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.47%
European (non-Finnish) · 17,385/1,179,996 alleles
Filtering AF
1.45%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.45%
Overall
1.18%
19,047/1,614,126 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 1.47% | 68 |
| Finnishnot grpmax-eligible | 1.13% | 88 |
| Remaining individualsnot grpmax-eligible | 0.902% | 111 |
| Admixed American | 0.322% | 311 |
| African / African-American | 0.22% | 455 |
| Amishnot grpmax-eligible | 0.11% | 910 |
| Middle Eastern | 0.066% | 1,516 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0236% | 4,230 |
| East Asian | 0.00446% | 22,432 |
| South Asian | 0.0011% | 91,082 |
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.Arg561=
- Coding
- c.1681A>C
- MANE Select
- NM_000845
- dbSNP
- rs61753364
- Type
- single nucleotide variant
- Location
- chr7:126533701 (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.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
- GRM8 p.Pro512Ala 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-arg561 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown