Is ANKRD26 p.Arg19= (c.57G>A) pathogenic?

ANKRD26 p.Arg19= (c.57G>A) is classified Likely benign in ANKRD26 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-01-17). Absent from gnomAD v4.1; Associated with Inborn genetic diseases.

What condition is associated with ANKRD26 p.Arg19= (c.57G>A)?

ANKRD26 p.Arg19= (c.57G>A) is associated with Inborn genetic diseases (ClinVar).

How common is ANKRD26 p.Arg19= (c.57G>A) in the general population?

ANKRD26 p.Arg19= (c.57G>A) is absent from gnomAD v4.1 (gnomAD).

ANKRD26 p.Arg19=

c.57G>A · VCV3870522

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 1,610,100)

Conditions

Inborn genetic diseases

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 -20	GERP -2.6
Overall
CADD	6.311	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,610,100). 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: ANKRD26
Protein: p.Arg19=
Coding: c.57G>A
MANE Select: NM_014915
Type: single nucleotide variant
Location: chr10:27100270 (GRCh38)
Gene constraint: LOEUF 0.728 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 62.91
Residue 19: the 'disordered' region

Full ANKRD26 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ANKRD26 p.Arg19Leu Conflicting classifications of pathogenicity ★ ⚠ same residue
ANKRD26 p.Arg19Trp Uncertain significance ★ ⚠ same residue
ANKRD26 p.Arg19Gln Uncertain significance ★ ⚠ same residue
ANKRD26 p.Ala1014Ser Uncertain significance ★★ ⚠ same condition
ANKRD26 p.Ala1015Val Uncertain significance ★★ ⚠ same condition
ANKRD26 p.Ala120Thr Uncertain significance ★★ ⚠ same condition
ANKRD26 p.Ala1215Thr Uncertain significance ★★ ⚠ same condition
ANKRD26 p.Ala1284Ser 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/ankrd26-p-arg19 (accessed [today's date]).

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