ANK2 p.Val2369Ser
c.7105_7106delinsTC · rs2505674270 · VCV1757196
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
Cardiovascular phenotype
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.031 | GERP -5.4 |
| Regional constraint | o/e 0.97 | unconstrained · MANE · 28 kb · p 0.16 · regional, not allelic |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. 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
- ANK2
- Protein
- p.Val2369Ser
- Coding
- c.7105_7106delinsTC
- MANE Select
- NM_001148
- dbSNP
- rs2505674270
- Type
- Indel
- Location
- chr4:113355723 (GRCh38)
- Gene constraint
- LOEUF 0.271 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Residue 2369
- a UniProt-annotated variant site (in); the 'disordered' region
Similar variants
- ANK2 p.Val2369Gly Conflicting classifications of pathogenicity ★ ⚠ same residue
- ANK2 p.Val2369Phe Conflicting classifications of pathogenicity ★ ⚠ same residue
- ANK2 p.Gln3921Ter Pathogenic ★★ same condition
- ANK2 p.Val2369Ala Benign/Likely benign ★★ same residue
- ANK2 p.Arg3113Ter Pathogenic ★★ same condition
- ANK2 p.Arg895Ter Pathogenic/Likely pathogenic ★★ same condition
- ANK2 p.Arg977Ter Pathogenic ★★ same condition
- ANK2 p.Lys2252_Lys2253insTer Pathogenic/Likely pathogenic ★★ 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/ank2-p-val2369ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown