ANKAR p.Ala610=
c.1830C>T · rs754714133 · VCV2651761
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00667%, amr)
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 -12 | GERP -3.2 |
| Overall | ||
| CADD | 0.122 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00667%
Admixed American · 4/60,008 alleles
Filtering AF
0.00226%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00135%
Overall
0.00171%
25/1,461,842 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00667% | 15,002 |
| Remaining individualsnot grpmax-eligible | 0.0064% | 15,627 |
| East Asian | 0.00223% | 44,872 |
| European (non-Finnish) | 0.00136% | 73,751 |
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
- ANKAR
- Protein
- p.Ala610=
- Coding
- c.1830C>T
- MANE Select
- NM_001378068
- dbSNP
- rs754714133
- Type
- single nucleotide variant
- Location
- chr2:189705144 (GRCh38)
- Gene constraint
- LOEUF 1.07 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.79
Similar variants
- ANKAR p.Asn938= Benign ★★ same type
- ANKAR p.Gln1419Leu Benign ★★ same type
- ANKAR p.Ile1349= Benign ★★ same type
- ANKAR p.Leu94Arg Benign ★★ same type
- ANKAR p.Thr206Ala Benign ★★ same type
- ANKAR p.Thr92= Benign ★★ same type
- ANKAR p.Tyr1262Ser Benign ★★ same type
- ANKAR p.Val776Ala 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/ankar-p-ala610 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown