Is DHX32 p.Phe698= (c.2094C>T) pathogenic?

DHX32 p.Phe698= (c.2094C>T) is classified Benign in DHX32 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2026-02-01). Common (popmax 6.33%, afr) — too common for a highly-penetrant pathogenic allele.

DHX32 p.Phe698=

Q: How common is DHX32 p.Phe698= (c.2094C>T) in the general population?

DHX32 p.Phe698= (c.2094C>T) is common (popmax 6.33%, afr) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.2094C>T · rs34866812 · VCV784171

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Common

common (popmax 6.33%, afr) — too common for a highly-penetrant pathogenic allele

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 5.8	GERP 1.4, phastCons 1
Overall
CADD	13.11	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 6.33% African / African-American · 4,747/75,016 alleles

Filtering AF 6.18% ClinGen BA1/BS1 input FAF95, joint · FAF99 6.12%

Overall 0.332% 5,364/1,614,094 alleles · common

Ancestry group	Frequency	1 in
African / African-Americangrpmax	6.33%	16
Remaining individualsnot grpmax-eligible	0.416%	240
Admixed American	0.383%	261
Middle Eastern	0.214%	466
South Asian	0.0154%	6,506
European (non-Finnish)	0.00847%	11,800

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: DHX32
Protein: p.Phe698=
Coding: c.2094C>T
MANE Select: NM_078468 · reported on NM_018180
dbSNP: rs34866812
Type: single nucleotide variant
Location: chr10:125836825 (GRCh38)

Full DHX32 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

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/dhx32-p-phe698 (accessed [today's date]).

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