GNB1 p.Ser277=
c.831C>T · rs1329742082 · VCV1553164
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00127%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.088 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 2.9 | GERP 0.41, phastCons 1 |
| Overall | ||
| CADD | 11.08 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00127%
European (non-Finnish) · 15/1,179,998 alleles
Filtering AF
0.000763%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000605%
Overall
0.000929%
15/1,614,042 alleles · very rare
exomes 14/1,461,820 · genomes 1/152,222 · 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
- GNB1
- Protein
- p.Ser277=
- Coding
- c.831C>T
- MANE Select
- NM_002074
- dbSNP
- rs1329742082
- Type
- single nucleotide variant
- Location
- chr1:1789138 (GRCh38)
- Gene constraint
- LOEUF 0.222 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 97.04 · 1043 PDB
- Residue 277
- a β-strand
Similar variants
- GNB1 p.Ser277Cys Uncertain significance ★ ⚠ same residue
- GNB1 c.498-2A>G Likely pathogenic ★★ same type
- GNB1 p.Ala73Ser Pathogenic/Likely pathogenic ★★ same type
- GNB1 p.Ala73Thr Pathogenic/Likely pathogenic ★★ same type
- GNB1 p.Ala92Thr Pathogenic/Likely pathogenic ★★ ⚠ same type
- GNB1 p.Asp118Gly Pathogenic ★★ same type
- GNB1 p.Asp118His Likely pathogenic ★★ same type
- GNB1 p.Asp118Tyr 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/gnb1-p-ser277 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown