GRIN2C p.Arg183=
c.549C>T · VCV4281199
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0338%, mid)
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 2 | phastCons 1 |
| Overall | ||
| CADD | 14.19 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0338%
Middle Eastern · 2/5,922 alleles
Filtering AF
0.00594%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00247%
Overall
0.000129%
2/1,552,292 alleles · ultra-rare
exomes 2/1,400,000 · genomes 0/152,292 · 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
- GRIN2C
- Protein
- p.Arg183=
- Coding
- c.549C>T
- MANE Select
- NM_000835
- Type
- single nucleotide variant
- Location
- chr17:74852462 (GRCh38)
- Gene constraint
- LOEUF 1.163 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 68.06 · 6 PDB
- Residue 183
- a UniProt-annotated variant site (found in a patient with autism spectrum disorder; uncertain significance)
Similar variants
- GRIN2C p.Arg183His Uncertain significance ★ ⚠ same residue
- GRIN2C p.Ala8Thr Likely benign ★★ same type
- GRIN2C p.Ala999= Likely benign ★★ same type
- GRIN2C p.Arg401Gln Benign ★★ same type
- GRIN2C p.Arg435= Benign ★★ same type
- GRIN2C p.Ile519= Benign/Likely benign ★★ same type
- GRIN2C p.Leu65Phe Likely benign ★★ same type
- GRIN2C p.Thr1196Ile 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/grin2c-p-arg183 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown