GC p.Lys94=
c.282G>A · rs36039552 · VCV775988
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 9.14%, afr) — too common for a highly-penetrant pathogenic allele
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 0.24 | GERP -0.93, phastCons 0.009 |
| Overall | ||
| CADD | 4.872 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
9.14%
African / African-American · 6,844/74,906 alleles
Filtering AF
8.96%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 8.88%
Overall
0.484%
7,807/1,612,538 alleles · common
exomes 3,812/1,460,388 · genomes 3,995/152,150 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 9.14% | 11 |
| Remaining individualsnot grpmax-eligible | 0.607% | 165 |
| Admixed American | 0.572% | 175 |
| Middle Eastern | 0.273% | 367 |
| South Asian | 0.0286% | 3,501 |
| European (non-Finnish) | 0.0169% | 5,924 |
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.Lys94=
- Coding
- c.282G>A
- MANE Select
- NM_000583
- dbSNP
- rs36039552
- Type
- single nucleotide variant
- Location
- chr4:71765623 (GRCh38)
- Gene constraint
- LOEUF 1.492 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 92.81 · 6 PDB
- Residue 94
- the albumin 1 domain; an α-helix
Similar variants
- GC c.701+7A>G Likely benign ★★ same type
- GC p.Arg425= Benign ★★ same type
- GC p.Asn288Asp Benign ★★ same type
- GC p.Lys229= Likely 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-lys94 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown