ANKAR p.Thr92=
c.276T>G · rs77970584 · VCV775795
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.46%, afr)
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 -1.2 | GERP -3.8 |
| Overall | ||
| CADD | 1.749 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.46%
African / African-American · 2,599/75,058 alleles
Filtering AF
3.35%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.31%
Overall
0.181%
2,918/1,614,160 alleles · low-frequency
exomes 1,496/1,461,818 · genomes 1,422/152,342 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.46% | 29 |
| Remaining individualsnot grpmax-eligible | 0.301% | 332 |
| Admixed American | 0.173% | 577 |
| Middle Eastern | 0.033% | 3,031 |
| South Asian | 0.0022% | 45,542 |
| European (non-Finnish) | 0.00195% | 51,304 |
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.Thr92=
- Coding
- c.276T>G
- MANE Select
- NM_001378068
- dbSNP
- rs77970584
- Type
- single nucleotide variant
- Location
- chr2:189676766 (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.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-thr92 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown