Is DNAH10 p.Pro3277= (c.9831C>T) pathogenic?

DNAH10 p.Pro3277= (c.9831C>T) is classified Likely benign in DNAH10 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-08-13). Ultra-rare (popmax 0.0212%, nfe); Associated with DNAH10-related disorder.

What condition is associated with DNAH10 p.Pro3277= (c.9831C>T)?

DNAH10 p.Pro3277= (c.9831C>T) is associated with DNAH10-related disorder (ClinVar).

How common is DNAH10 p.Pro3277= (c.9831C>T) in the general population?

DNAH10 p.Pro3277= (c.9831C>T) is ultra-rare (popmax 0.0212%, nfe) (gnomAD).

DNAH10 p.Pro3277=

c.9831C>T · rs199591266 · VCV3052489

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0212%, nfe)

Conditions

DNAH10-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.52	indeterminate
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -0.72	GERP -2.7, phastCons 0.008
Overall
CADD	5.612	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0212% European (non-Finnish) · 250/1,179,704 alleles

Filtering AF 0.019% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0182%

Overall 0.0172% 278/1,613,230 alleles · ultra-rare

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.0212%	4,719
South Asian	0.0165%	6,055
Remaining individualsnot grpmax-eligible	0.0128%	7,810
Admixed American	0.00334%	29,971
African / African-American	0.00267%	37,522
Finnishnot grpmax-eligible	0.00157%	63,844

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: DNAH10
Protein: p.Pro3277=
Coding: c.9831C>T
MANE Select: NM_001372106
dbSNP: rs199591266
Type: single nucleotide variant
Location: chr12:123909276 (GRCh38)
Gene constraint: LOEUF 0.763 · pLI <0.01 (gnomAD)
Residue 3277: the 'stalk' region

Full DNAH10 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

DNAH10-related disorder

Similar variants

DNAH10 p.Pro3309Ala Uncertain significance ★ ⚠ same condition
DNAH10 p.Gln999Glu Uncertain significance ⚠ same condition
DNAH10 p.Lys132Asn Uncertain significance ⚠ same condition
DNAH10 c.11766+6C>T Likely benign same condition
DNAH10 c.2987+8C>T Likely benign same condition
DNAH10 p.Ala1801= Benign same condition
DNAH10 p.Ala2444= Likely benign same condition
DNAH10 p.Arg3494= 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/dnah10-p-pro3277 (accessed [today's date]).

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