ANKAR p.Asn938=
c.2814C>T · rs142352023 · VCV781687
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 4.73%, 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 0.08 | GERP -0.23, phastCons 0.015 |
| Overall | ||
| CADD | 6.242 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
4.73%
Admixed American · 2,835/59,962 alleles
Filtering AF
4.58%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.52%
Overall
0.232%
3,748/1,613,836 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 4.73% | 21 |
| East Asian | 0.905% | 111 |
| Remaining individualsnot grpmax-eligible | 0.302% | 331 |
| South Asian | 0.193% | 517 |
| Middle Eastern | 0.066% | 1,516 |
| African / African-American | 0.0347% | 2,885 |
| European (non-Finnish) | 0.00924% | 10,825 |
| Finnishnot grpmax-eligible | 0.00469% | 21,335 |
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.Asn938=
- Coding
- c.2814C>T
- MANE Select
- NM_001378068
- dbSNP
- rs142352023
- Type
- single nucleotide variant
- Location
- chr2:189728034 (GRCh38)
- Gene constraint
- LOEUF 1.07 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.79
Similar variants
- 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
- 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-asn938 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown