Is DNAH17 p.Asp2835= (c.8505C>T) pathogenic?

DNAH17 p.Asp2835= (c.8505C>T) is classified Benign in DNAH17 (ClinVar, Multiple submitters, 4 submitters; last evaluated 2021-05-04). Common (popmax 18.6%, sas) — too common for a highly-penetrant pathogenic allele.

DNAH17 p.Asp2835=

Q: How common is DNAH17 p.Asp2835= (c.8505C>T) in the general population?

DNAH17 p.Asp2835= (c.8505C>T) is common (popmax 18.6%, sas) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.8505C>T · rs61746438 · VCV402678

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 4 submitters

gnomAD v4.1

Common

common (popmax 18.6%, sas) — 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 assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 3.3	GERP -1.8, phastCons 1
Overall
CADD	8.598	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 18.6% South Asian · 16,898/91,072 alleles

Filtering AF 18.3% ClinGen BA1/BS1 input FAF95, joint · FAF99 18.2%

Overall 12.3% 198,874/1,613,812 alleles · common

Ancestry group	Frequency	1 in
South Asiangrpmax	18.6%	5
East Asian	16.1%	6
Finnishnot grpmax-eligible	16%	6
Amishnot grpmax-eligible	13.8%	7
Remaining individualsnot grpmax-eligible	12.8%	8
Middle Eastern	12.4%	8
European (non-Finnish)	12%	8
Ashkenazi Jewishnot grpmax-eligible	11%	9
African / African-American	8.49%	12
Admixed American	8.28%	12

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.Asp2835=
Coding: c.8505C>T
MANE Select: NM_173628
dbSNP: rs61746438
Type: single nucleotide variant
Location: chr17:78475284 (GRCh38)
Gene constraint: LOEUF 0.859 · pLI <0.01 (gnomAD)
Residue 2835: a UniProt-annotated variant site (in spgf39); the 'aaa 4' region

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

Similar variants

DNAH17 p.Asp2835Asn Uncertain significance ★ same residue
DNAH17 c.7752+2T>A Pathogenic/Likely pathogenic ★★ same type
DNAH17 p.Ala1014Val Uncertain significance ★★ ⚠ same type
DNAH17 p.Arg1217Thr Uncertain significance ★★ ⚠ same type
DNAH17 p.Arg2941Gln Uncertain significance ★★ same type
DNAH17 p.Arg4050Gln Uncertain significance ★★ same type
DNAH17 p.Arg4101Gln Uncertain significance ★★ ⚠ same type
DNAH17 p.Arg4246His Uncertain significance ★★ ⚠ same type

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-asp2835 (accessed [today's date]).

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