Is ANKRD36 p.Pro528= (c.1584C>T) pathogenic?

ANKRD36 p.Pro528= (c.1584C>T) is classified Likely benign in ANKRD36 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-03-01). No allele count reported in gnomAD v4.1 (AN 1,536,960).

How common is ANKRD36 p.Pro528= (c.1584C>T) in the general population?

ANKRD36 p.Pro528= (c.1584C>T) is no allele count reported in gnomAD v4.1 (AN 1,536,960) (gnomAD).

ANKRD36 p.Pro528=

c.1584C>T · VCV3778088

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 1,536,960)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal.
Splicing
SpliceAI	Δ0.21	donor loss, 49 bp away · masked 0 · deltas
Constraint at this position
Conservation	phyloP -0.24
Overall
CADD	1.14	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,536,960). 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: ANKRD36
Protein: p.Pro528=
Coding: c.1584C>T
MANE Select: NM_001354587
Type: single nucleotide variant
Location: chr2:97167718 (GRCh38)
Gene constraint: LOEUF 1.132 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 50.82
Residue 528: the 'disordered' region

Full ANKRD36 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ANKRD36 c.2173-3A>C Likely benign ★ same type
ANKRD36 c.-4G>C Likely benign ★ same type
ANKRD36 p.Ala228= Likely benign ★ same type
ANKRD36 p.Asp404= Likely benign ★ same type
ANKRD36 p.Asp558= Likely benign ★ same type
ANKRD36 p.Cys1792= Likely benign ★ same type
ANKRD36 p.Cys445= Likely benign ★ same type
ANKRD36 p.Gly1189= Likely benign ★ 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/ankrd36-p-pro528 (accessed [today's date]).

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