TRPC5 p.Asn10=
c.30C>T · VCV3344865
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00701%, afr)
Conditions
1
TRPC5-related 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 5.6 | GERP -0.13, phastCons 1 |
| Overall | ||
| CADD | 5.973 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00701%
African / African-American · 4/57,025 alleles
Filtering AF
0.00234%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0014%
Overall
0.000497%
6/1,206,501 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00701% | 14,256 |
| Admixed American | 0.00441% | 22,666 |
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
- TRPC5
- Protein
- p.Asn10=
- Coding
- c.30C>T
- MANE Select
- NM_012471
- Type
- single nucleotide variant
- Location
- chrX:111952391 (GRCh38)
- Structure
- AlphaFold pLDDT 73.82 · 30 PDB
Disease context
TRPC5-related disorder
Similar variants
- TRPC5 p.Asn10Ser Uncertain significance ★ ⚠ same residue
- TRPC5 p.Arg222Cys Uncertain significance ★ ⚠ same condition
- TRPC5 p.Gln914Glu Uncertain significance ★ ⚠ same condition
- TRPC5 p.Lys7Gln Uncertain significance ★ ⚠ same condition
- TRPC5 p.Ala912Thr Uncertain significance ⚠ same condition
- TRPC5 p.Arg120Trp Uncertain significance ⚠ same condition
- TRPC5 p.Arg191His Uncertain significance ⚠ same condition
- TRPC5 p.Arg260Trp Uncertain significance ⚠ 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/trpc5-p-asn10 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown