Is DHX32 p.Ser622= (c.1866C>T) pathogenic?

DHX32 p.Ser622= (c.1866C>T) is classified Likely benign in DHX32 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-09-21). Ultra-rare (popmax 0.0356%, eas).

How common is DHX32 p.Ser622= (c.1866C>T) in the general population?

DHX32 p.Ser622= (c.1866C>T) is ultra-rare (popmax 0.0356%, eas) (gnomAD).

DHX32 p.Ser622=

c.1866C>T · rs373773677 · VCV1905789

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0356%, eas)

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 -6.2	GERP -3.7
Overall
CADD	3.184	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0356% East Asian · 16/44,894 alleles

Filtering AF 0.0223% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0182%

Overall 0.00669% 108/1,613,742 alleles · ultra-rare

Ancestry group	Frequency	1 in
East Asiangrpmax	0.0356%	2,806
European (non-Finnish)	0.0072%	13,881
Remaining individualsnot grpmax-eligible	0.0048%	20,825
African / African-American	0.00267%	37,449
Admixed American	0.00167%	59,984
South Asian	0.0011%	91,062

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.Ser622=
Coding: c.1866C>T
MANE Select: NM_078468 · reported on NM_018180
dbSNP: rs373773677
Type: single nucleotide variant
Location: chr10:125839016 (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-ser622 (accessed [today's date]).

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