ANKAR p.Ile1349=
c.4047C>T · rs61744814 · VCV785021
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 5.63%, afr) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.259 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 1.6 | GERP 1.8, phastCons 1 |
| Overall | ||
| CADD | 9.697 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
5.63%
African / African-American · 4,167/74,010 alleles
Filtering AF
5.49%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 5.43%
Overall
0.298%
4,735/1,588,122 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 5.63% | 18 |
| Admixed American | 0.363% | 276 |
| Remaining individualsnot grpmax-eligible | 0.359% | 278 |
| Middle Eastern | 0.267% | 374 |
| European (non-Finnish) | 0.0094% | 10,633 |
| South Asian | 0.00668% | 14,979 |
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.Ile1349=
- Coding
- c.4047C>T
- MANE Select
- NM_001378068
- dbSNP
- rs61744814
- Type
- single nucleotide variant
- Location
- chr2:189744778 (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.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
- OSGEPL1 p.Asn27His 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-ile1349 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown