TRPV4 p.Ser35=
c.105C>T · rs1167497327 · VCV1702502
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00017%, nfe)
Conditions
1
connective tissue disorder
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 -7.6 | GERP -2.6 |
| Overall | ||
| CADD | 0.528 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00017%
European (non-Finnish) · 2/1,178,894 alleles
Filtering AF
2.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.1e-05%
Overall
0.000124%
2/1,610,610 alleles · very rare
exomes 1/1,458,454 · genomes 1/152,156 · 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
- TRPV4
- Protein
- p.Ser35=
- Coding
- c.105C>T
- MANE Select
- NM_021625
- dbSNP
- rs1167497327
- Type
- single nucleotide variant
- Location
- chr12:109814692 (GRCh38)
- Gene constraint
- LOEUF 0.824 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 72.06 · 19 PDB
- Residue 35
- the 'disordered' region
Similar variants
- TRPV4 p.Arg852Cys Uncertain significance ★★ ⚠ same condition
- TRPV4 c.2459-9T>G Benign ★★ same condition
- TRPV4 c.854-4G>A Benign/Likely benign ★★ same condition
- TRPV4 c.854-5C>T Benign/Likely benign ★★ same condition
- TRPV4 p.Ala217Ser Benign/Likely benign ★★ ⚠ same condition
- TRPV4 p.Asn474= Likely benign ★★ same condition
- TRPV4 p.Glu840Lys Benign/Likely benign ★★ same condition
- TRPV4 p.Gly11= Benign/Likely benign ★★ same condition
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/trpv4-p-ser35 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown