Is ANKRD26 p.Val208= (c.624A>G) pathogenic?

ANKRD26 p.Val208= (c.624A>G) is classified Benign/Likely benign in ANKRD26 (ClinVar, Multiple submitters, 9 submitters; last evaluated 2026-02-04). Common (popmax 57.5%, eas) — too common for a highly-penetrant pathogenic allele; Associated with thrombocytopenia 2.

What condition is associated with ANKRD26 p.Val208= (c.624A>G)?

ANKRD26 p.Val208= (c.624A>G) is associated with thrombocytopenia 2 (ClinVar).

ANKRD26 p.Val208=

Q: How common is ANKRD26 p.Val208= (c.624A>G) in the general population?

ANKRD26 p.Val208= (c.624A>G) is common (popmax 57.5%, eas) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.624A>G · rs2297145 · VCV260473

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 9 submitters

gnomAD v4.1

Common

common (popmax 57.5%, eas) — too common for a highly-penetrant pathogenic allele

Conditions

thrombocytopenia 2

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP -13	GERP -3.7
Overall
CADD	0.198	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 57.5% East Asian · 25,736/44,750 alleles

Filtering AF 56.9% ClinGen BA1/BS1 input FAF95, joint · FAF99 56.7%

Overall 19.9% 319,860/1,607,082 alleles · common exomes 284,013/1,455,018 · genomes 35,847/152,064 · joint denominator

Ancestry group	Frequency	1 in
East Asiangrpmax	57.5%	2
South Asian	36.5%	3
African / African-American	30.8%	3
Finnishnot grpmax-eligible	25.1%	4
Remaining individualsnot grpmax-eligible	21.7%	5
Middle Eastern	21.5%	5
Ashkenazi Jewishnot grpmax-eligible	21.4%	5
Admixed American	19.5%	5
Amishnot grpmax-eligible	17.7%	6
European (non-Finnish)	16.1%	6

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.Val208=
Coding: c.624A>G
MANE Select: NM_014915
dbSNP: rs2297145
Type: single nucleotide variant
Location: chr10:27092420 (GRCh38)
Gene constraint: LOEUF 0.728 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 62.91

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

Disease context

thrombocytopenia 2 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ANKRD26 p.Val208Ile Uncertain significance ★ ⚠ same residue
ANKRD26 c.-118C>T Pathogenic/Likely pathogenic ★★ same condition
ANKRD26 c.-126T>C Pathogenic/Likely pathogenic ★★ same condition
ANKRD26 c.-127A>T Pathogenic/Likely pathogenic ★★ same condition
ANKRD26 c.-128G>A Pathogenic/Likely pathogenic ★★ same condition
ANKRD26 c.-128G>T Pathogenic/Likely pathogenic ★★ same condition
ANKRD26 c.-134G>A Pathogenic/Likely pathogenic ★★ same condition
ANKRD26 c.4724+2T>A 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-val208 (accessed [today's date]).

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