Is TRPC5 p.Ala929= (c.2787A>G) pathogenic?

TRPC5 p.Ala929= (c.2787A>G) is classified Likely benign in TRPC5 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2024-01-02). Very rare (popmax 0.0035%, afr); Associated with TRPC5-related disorder.

What condition is associated with TRPC5 p.Ala929= (c.2787A>G)?

TRPC5 p.Ala929= (c.2787A>G) is associated with TRPC5-related disorder (ClinVar).

How common is TRPC5 p.Ala929= (c.2787A>G) in the general population?

TRPC5 p.Ala929= (c.2787A>G) is very rare (popmax 0.0035%, afr) (gnomAD).

TRPC5 p.Ala929=

c.2787A>G · VCV3353757

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.0035%, afr)

Conditions

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 0.2	GERP 0.98, phastCons 0.26
Overall
CADD	7.282	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0035% African / African-American · 2/57,175 alleles

Filtering AF 0.00058% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000217%

Overall 0.000165% 2/1,209,692 alleles · very rare exomes 1/1,097,761 · genomes 1/111,931 · 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: TRPC5
Protein: p.Ala929=
Coding: c.2787A>G
MANE Select: NM_012471
Type: single nucleotide variant
Location: chrX:111776448 (GRCh38)
Structure: AlphaFold pLDDT 73.82 · 30 PDB

Full TRPC5 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

TRPC5-related disorder

Similar variants

TRPC5 p.Ala929Thr 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-ala929 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown