Is ANKRD17 p.Thr166= (c.498A>G) pathogenic?

ANKRD17 p.Thr166= (c.498A>G) is classified Likely benign in ANKRD17 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2022-11-17). Ultra-rare (popmax 0.0284%, amr); Associated with ANKRD17-related disorder.

What condition is associated with ANKRD17 p.Thr166= (c.498A>G)?

ANKRD17 p.Thr166= (c.498A>G) is associated with ANKRD17-related disorder (ClinVar).

How common is ANKRD17 p.Thr166= (c.498A>G) in the general population?

ANKRD17 p.Thr166= (c.498A>G) is ultra-rare (popmax 0.0284%, amr) (gnomAD).

ANKRD17 p.Thr166=

c.498A>G · rs370474967 · VCV3046636

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0284%, amr)

Conditions

ANKRD17-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 -1.1	GERP -4.2, phastCons 0.002
Overall
CADD	9.07	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0284% Admixed American · 17/59,950 alleles

Filtering AF 0.018% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0147%

Overall 0.00695% 112/1,612,278 alleles · ultra-rare

Ancestry group	Frequency	1 in
Admixed Americangrpmax	0.0284%	3,526
Remaining individualsnot grpmax-eligible	0.0128%	7,799
European (non-Finnish)	0.0073%	13,708
African / African-American	0.00134%	74,904

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: ANKRD17
Protein: p.Thr166=
Coding: c.498A>G
MANE Select: NM_032217
dbSNP: rs370474967
Type: single nucleotide variant
Location: chr4:73177429 (GRCh38)
Gene constraint: LOEUF 0.118 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 53.73

Full ANKRD17 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

ANKRD17-related disorder

Similar variants

ANKRD17 p.Gly587Glu Uncertain significance ★★ ⚠ same condition
ANKRD17 p.Ala437Asp Uncertain significance ★ ⚠ same condition
ANKRD17 p.Asp138His Uncertain significance ★ ⚠ same condition
ANKRD17 p.Asp2470Gly Uncertain significance ★ ⚠ same condition
ANKRD17 p.Gln931Lys Uncertain significance ★ ⚠ same condition
ANKRD17 p.Ile1346Thr Uncertain significance ★ ⚠ same condition
ANKRD17 p.Ile2446= Uncertain significance ★ same condition
ANKRD17 p.Lys1942Asn Uncertain significance ★ ⚠ 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/ankrd17-p-thr166 (accessed [today's date]).

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