Is ANKRD17 p.Pro1981fs (c.5942_5948del) pathogenic?

ANKRD17 p.Pro1981fs (c.59425948del) is classified Likely pathogenic in ANKRD17 (ClinVar, Single submitter, 1 submitter; last evaluated 2020-01-22). Associated with ANKRD17-related disorder.

What condition is associated with ANKRD17 p.Pro1981fs (c.5942_5948del)?

ANKRD17 p.Pro1981fs (c.5942_5948del) is associated with ANKRD17-related disorder (ClinVar).

ANKRD17 p.Pro1981fs

c.5942_5948del · VCV4967382

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

ANKRD17-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 29 of 34
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.2	GERP 1.9, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: ANKRD17
Protein: p.Pro1981fs
Coding: c.5942_5948del
MANE Select: NM_032217
Type: Deletion
Location: chr4:73091680 (GRCh38)
Gene constraint: LOEUF 0.118 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 53.73
Residue 1981: the 'disordered' region; a UniProt-annotated variant site (in cags)

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

Disease context

ANKRD17-related disorder

Similar variants

ANKRD17 p.Gly107_Gly110del Likely benign same condition
ANKRD17 p.Gly587Glu Uncertain significance ★★ ⚠ same condition
ANKRD17 p.Gly1295fs Likely pathogenic ★ 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

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-pro1981fs (accessed [today's date]).

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