Is ANKRD26 p.Ser36= (c.108G>C) pathogenic?

ANKRD26 p.Ser36= (c.108G>C) is classified Likely benign in ANKRD26 (ClinVar, Multiple submitters, 3 submitters; last evaluated 2025-07-30). Very rare (popmax 0.00822%, nfe); Associated with Inborn genetic diseases.

What condition is associated with ANKRD26 p.Ser36= (c.108G>C)?

ANKRD26 p.Ser36= (c.108G>C) is associated with Inborn genetic diseases (ClinVar).

How common is ANKRD26 p.Ser36= (c.108G>C) in the general population?

ANKRD26 p.Ser36= (c.108G>C) is very rare (popmax 0.00822%, nfe) (gnomAD).

ANKRD26 p.Ser36=

c.108G>C · rs376448586 · VCV2077850

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Rare

very rare (popmax 0.00822%, nfe)

Conditions

Inborn genetic diseases

Computational evidence

Protein change
Missense predictors do not apply to this variant type.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Overall
CADD	2.577	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00822% European (non-Finnish) · 97/1,179,862 alleles

Filtering AF 0.00689% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00633%

Overall 0.00639% 103/1,612,966 alleles · very rare exomes 100/1,460,726 · genomes 3/152,240 · joint denominator

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.00822%	12,164
Remaining individualsnot grpmax-eligible	0.0064%	15,614
Finnishnot grpmax-eligible	0.00158%	63,162
African / African-American	0.00133%	74,938

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: ANKRD26
Protein: p.Ser36=
Coding: c.108G>C
MANE Select: NM_014915
dbSNP: rs376448586
Type: single nucleotide variant
Location: chr10:27100219 (GRCh38)
Gene constraint: LOEUF 0.728 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 62.91
Residue 36: 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.Ser36Ala Uncertain significance ★ ⚠ same residue
ANKRD26 p.Ser36Trp Uncertain significance ★ ⚠ same residue
ANKRD26 p.Ser36Ter 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-ser36 (accessed [today's date]).

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