Is ANKRD17 p.Val23= (c.69G>T) pathogenic?

ANKRD17 p.Val23= (c.69G>T) is classified Likely benign in ANKRD17 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-06-01). Absent from gnomAD v4.1.

How common is ANKRD17 p.Val23= (c.69G>T) in the general population?

ANKRD17 p.Val23= (c.69G>T) is absent from gnomAD v4.1 (gnomAD).

ANKRD17 p.Val23=

c.69G>T · VCV4085186

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,474,636)

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 1.9	GERP 1.5, phastCons 1
Overall
CADD	7.704	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,474,636). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: ANKRD17
Protein: p.Val23=
Coding: c.69G>T
MANE Select: NM_032217
Type: single nucleotide variant
Location: chr4:73258600 (GRCh38)
Gene constraint: LOEUF 0.118 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 53.73
Residue 23: the 'disordered' region

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

Similar variants

ANKRD17 p.Arg1712His Uncertain significance ★★ ⚠ same type
ANKRD17 p.Arg418Gln Uncertain significance ★★ ⚠ same type
ANKRD17 p.Arg52Cys Uncertain significance ★★ ⚠ same type
ANKRD17 p.Asn1251Ser Uncertain significance ★★ ⚠ same type
ANKRD17 p.Asn2416Ser Uncertain significance ★★ ⚠ same type
ANKRD17 p.Asp1586Gly Uncertain significance ★★ ⚠ same type
ANKRD17 p.Cys1690Tyr Uncertain significance ★★ ⚠ same type
ANKRD17 p.Gln907Pro 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/ankrd17-p-val23 (accessed [today's date]).

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