ANK1 p.Val61=
c.183G>C · rs61753680 · VCV261295
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 8 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.26%, sas)
Conditions
2
Spherocytosis
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.2 | GERP -1.6, phastCons 1 |
| Overall | ||
| CADD | 11.61 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.26%
South Asian · 2,969/91,076 alleles
Filtering AF
3.16%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.12%
Overall
1.88%
30,279/1,614,130 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 3.26% | 31 |
| European (non-Finnish) | 2.07% | 48 |
| Amishnot grpmax-eligible | 1.97% | 51 |
| Remaining individualsnot grpmax-eligible | 1.62% | 62 |
| Ashkenazi Jewishnot grpmax-eligible | 1.57% | 64 |
| Finnishnot grpmax-eligible | 0.982% | 102 |
| Middle Eastern | 0.808% | 124 |
| Admixed American | 0.716% | 140 |
| African / African-American | 0.318% | 314 |
| East Asian | 0.0134% | 7,482 |
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
- ANK1
- Protein
- p.Val61=
- Coding
- c.183G>C
- MANE Select
- NM_000037
- dbSNP
- rs61753680
- Type
- single nucleotide variant
- Location
- chr8:41734016 (GRCh38)
- Gene constraint
- LOEUF 0.299 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 69.64 · 21 PDB
- Residue 61
- an α-helix; the '89 kda domain' region
Similar variants
- ANK1 p.Val61fs Likely pathogenic ★ same residue
- ANK1 c.1305+1G>A Pathogenic ★★ same condition
- ANK1 c.1405-9G>A Pathogenic/Likely pathogenic ★★ same condition
- ANK1 c.1702-2A>G Pathogenic/Likely pathogenic ★★ same condition
- ANK1 c.1801-17G>A Pathogenic/Likely pathogenic ★★ same condition
- ANK1 c.2296-1G>A Likely pathogenic ★★ same condition
- ANK1 c.2296-2A>G Pathogenic/Likely pathogenic ★★ same condition
- ANK1 c.2389-2A>G 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/ank1-p-val61 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown