Is ANK2 p.Thr2304= (c.6912T>C) pathogenic?

ANK2 p.Thr2304= (c.6912T>C) is classified Conflicting classifications of pathogenicity in ANK2 (ClinVar, Conflicting submitters, 8 submitters; last evaluated 2026-06-01). Rare (popmax 0.149%, nfe); Associated with Cardiovascular phenotype.

What condition is associated with ANK2 p.Thr2304= (c.6912T>C)?

ANK2 p.Thr2304= (c.6912T>C) is associated with Cardiovascular phenotype, long QT syndrome, cardiac arrhythmia, ankyrin-B-related (ClinVar).

How common is ANK2 p.Thr2304= (c.6912T>C) in the general population?

ANK2 p.Thr2304= (c.6912T>C) is rare (popmax 0.149%, nfe) (gnomAD).

ANK2 p.Thr2304=

c.6912T>C · rs190680846 · VCV238586

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 8 submitters

gnomAD v4.1

Rare

rare (popmax 0.149%, nfe)

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -3.3	GERP -4.8
Overall
CADD	0.273	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.149% European (non-Finnish) · 1,759/1,179,962 alleles

Filtering AF 0.143% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.141%

Overall 0.116% 1,865/1,614,072 alleles · rare

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.149%	671
Remaining individualsnot grpmax-eligible	0.104%	962
Admixed American	0.035%	2,859
African / African-American	0.0213%	4,690
Finnishnot grpmax-eligible	0.00625%	16,007

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: ANK2
Protein: p.Thr2304=
Coding: c.6912T>C
dbSNP: rs190680846
Type: single nucleotide variant
Location: chr4:113355530 (GRCh38)

Full ANK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Cardiovascular phenotype — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: long QT syndrome cardiac arrhythmia, ankyrin-B-related

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/ank2-p-thr2304 (accessed [today's date]).

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