GC p.Arg425=
c.1273C>A · rs137942674 · VCV787805
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.672%, afr)
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 -0.019 | |
| Overall | ||
| CADD | 0.865 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.672%
African / African-American · 504/74,958 alleles
Filtering AF
0.624%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.605%
Overall
0.0531%
857/1,612,574 alleles · rare
exomes 545/1,460,354 · genomes 312/152,220 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.672% | 149 |
| Middle Eastern | 0.182% | 550 |
| Admixed American | 0.0902% | 1,109 |
| Remaining individualsnot grpmax-eligible | 0.0592% | 1,688 |
| European (non-Finnish) | 0.0212% | 4,716 |
| East Asian | 0.00223% | 44,836 |
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
- GC
- Protein
- p.Arg425=
- Coding
- c.1273C>A
- MANE Select
- NM_000583
- dbSNP
- rs137942674
- Type
- single nucleotide variant
- Location
- chr4:71752640 (GRCh38)
- Gene constraint
- LOEUF 1.492 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 92.81 · 6 PDB
- Residue 425
- the albumin 3 domain; an α-helix
Similar variants
- GC c.701+7A>G Likely benign ★★ same type
- GC p.Asn288Asp Benign ★★ same type
- GC p.Lys229= Likely benign ★★ same type
- GC p.Lys94= Benign ★★ same type
- GC p.Tyr136= Benign ★★ same type
- GC p.Ala147Val Uncertain significance ★ ⚠ same type
- GC p.Arg218Lys Uncertain significance ★ ⚠ same type
- GC p.Asn217His Uncertain significance ★ ⚠ 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/gc-p-arg425 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown