ANK2 p.Val77=
c.231G>A · rs149699185 · VCV413949
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 12 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0747%, nfe)
Conditions
3
Cardiovascular phenotype
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 6.3 | GERP -1.2, phastCons 1 |
| Overall | ||
| CADD | 9.887 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0747%
European (non-Finnish) · 881/1,179,982 alleles
Filtering AF
0.0706%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0689%
Overall
0.0578%
932/1,613,724 alleles · ultra-rare
exomes 864/1,461,524 · genomes 68/152,200 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0747% | 1,339 |
| Remaining individualsnot grpmax-eligible | 0.0512% | 1,952 |
| African / African-American | 0.02% | 4,996 |
| Admixed American | 0.005% | 19,992 |
| Finnishnot grpmax-eligible | 0.00156% | 63,980 |
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.Val77=
- Coding
- c.231G>A
- MANE Select
- NM_001148
- dbSNP
- rs149699185
- Type
- single nucleotide variant
- Location
- chr4:113196412 (GRCh38)
- Gene constraint
- LOEUF 0.271 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Residue 77
- an α-helix
Similar variants
- ANK2 p.Val77Met Conflicting classifications of pathogenicity ★ same residue
- ANK2 p.Arg1007Ter Pathogenic/Likely pathogenic ★★ same condition
- ANK2 p.Arg1088Ter Pathogenic ★★ same condition
- ANK2 p.Arg3113Ter Pathogenic ★★ same condition
- ANK2 p.Arg895Ter Pathogenic/Likely pathogenic ★★ same condition
- ANK2 p.Arg977Ter Pathogenic ★★ same condition
- ANK2 c.11032+11G>T Uncertain significance ★★ same condition
- ANK2 c.11611-3T>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/ank2-p-val77 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown