CLGN p.Cys185=
c.555T>C · rs112605307 · VCV785108
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.73%, 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 1 | GERP -3.2, phastCons 0.99 |
| Overall | ||
| CADD | 5.101 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.73%
African / African-American · 1,293/74,802 alleles
Filtering AF
1.65%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.62%
Overall
0.111%
1,779/1,605,852 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.73% | 58 |
| Middle Eastern | 0.249% | 401 |
| Admixed American | 0.211% | 475 |
| Remaining individualsnot grpmax-eligible | 0.167% | 598 |
| European (non-Finnish) | 0.0194% | 5,168 |
| South Asian | 0.011% | 9,069 |
| East Asian | 0.00894% | 11,186 |
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
- CLGN
- Protein
- p.Cys185=
- Coding
- c.555T>C
- MANE Select
- NM_004362
- dbSNP
- rs112605307
- Type
- single nucleotide variant
- Location
- chr4:140400496 (GRCh38)
- Gene constraint
- LOEUF 0.827 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 76.36
- Residue 185
- a disulfide bond
Similar variants
- CLGN p.Ala210Thr Uncertain significance ★ ⚠ same type
- CLGN p.Ala529Thr Uncertain significance ★ ⚠ same type
- CLGN p.Ala63Gly Uncertain significance ★ ⚠ same type
- CLGN p.Arg196Gly Uncertain significance ★ ⚠ same type
- CLGN p.Arg373Ser Uncertain significance ★ ⚠ same type
- CLGN p.Arg603His Uncertain significance ★ ⚠ same type
- CLGN p.Arg608Gln Uncertain significance ★ ⚠ same type
- CLGN p.Arg70Thr 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/clgn-p-cys185 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown