C4BPB p.Val35=
c.105C>T · rs56073690 · VCV780296
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.57%, 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 -0.24 | phastCons 0.013 |
| Overall | ||
| CADD | 5.223 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.57%
African / African-American · 1,174/75,000 alleles
Filtering AF
1.49%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.46%
Overall
0.0874%
1,410/1,613,652 alleles · low-frequency
exomes 739/1,461,446 · genomes 671/152,206 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.57% | 64 |
| Admixed American | 0.153% | 652 |
| Remaining individualsnot grpmax-eligible | 0.138% | 727 |
| Middle Eastern | 0.0837% | 1,194 |
| South Asian | 0.00549% | 18,204 |
| European (non-Finnish) | 0.0039% | 25,648 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,594 |
| East Asian | 0.00223% | 44,852 |
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
- C4BPB
- Protein
- p.Val35=
- Coding
- c.105C>T
- MANE Select
- NM_001017365
- dbSNP
- rs56073690
- Type
- single nucleotide variant
- Location
- chr1:207090354 (GRCh38)
- Gene constraint
- LOEUF 1.147 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.06
- Residue 35
- the sushi 1 domain
Similar variants
- C4BPB c.232+3A>G Benign/Likely benign ★★ same type
- C4BPB c.409+265G>A Benign ★★ same type
- C4BPB c.409+8C>A Likely benign ★★ same type
- C4BPB c.410-12C>T Benign ★★ same type
- C4BPB c.410-9T>C Benign/Likely benign ★★ same type
- C4BPB c.58+46T>G Benign ★★ same type
- C4BPB c.59-114C>T Benign ★★ same type
- C4BPB c.618+253T>G 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/c4bpb-p-val35 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown