Is DNAH17 p.Ala3237= (c.9711C>T) pathogenic?

DNAH17 p.Ala3237= (c.9711C>T) is classified Benign in DNAH17 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-03-04). Low-frequency (popmax 2.14%, afr); Associated with DNAH17-related disorder.

What condition is associated with DNAH17 p.Ala3237= (c.9711C>T)?

DNAH17 p.Ala3237= (c.9711C>T) is associated with DNAH17-related disorder (ClinVar).

How common is DNAH17 p.Ala3237= (c.9711C>T) in the general population?

DNAH17 p.Ala3237= (c.9711C>T) is low-frequency (popmax 2.14%, afr) (gnomAD).

DNAH17 p.Ala3237=

c.9711C>T · rs894977 · VCV3035238

Benign No assertion criteria

Classification

Benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

low-frequency (popmax 2.14%, afr)

Conditions

DNAH17-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 -20	GERP -4.1
Overall
CADD	0.073	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 2.14% African / African-American · 1,609/75,058 alleles

Filtering AF 2.06% ClinGen BA1/BS1 input FAF95, joint · FAF99 2.02%

Overall 0.111% 1,787/1,614,012 alleles · low-frequency

Ancestry group	Frequency	1 in
African / African-Americangrpmax	2.14%	47
Remaining individualsnot grpmax-eligible	0.11%	906
Admixed American	0.105%	953
Middle Eastern	0.0165%	6,062
South Asian	0.011%	9,109
East Asian	0.00446%	22,446
European (non-Finnish)	0.0028%	35,755

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: DNAH17
Protein: p.Ala3237=
Coding: c.9711C>T
MANE Select: NM_173628
dbSNP: rs894977
Type: single nucleotide variant
Location: chr17:78459151 (GRCh38)
Gene constraint: LOEUF 0.859 · pLI <0.01 (gnomAD)
Residue 3237: a UniProt-annotated variant site (in spgf39); the 'stalk' region

Full DNAH17 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

DNAH17-related disorder

Similar variants

DNAH17 c.6818+1G>A Likely pathogenic same condition
DNAH17 p.Ala2154Thr Uncertain significance ⚠ same condition
DNAH17 c.10735-5T>G Likely benign same condition
DNAH17 c.11212-7C>T Likely benign same condition
DNAH17 c.11334+4C>T Likely benign same condition
DNAH17 c.11805+5G>A Likely benign same condition
DNAH17 c.12915+7G>T Benign same condition
DNAH17 c.1836-10C>G 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/dnah17-p-ala3237 (accessed [today's date]).

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