AHNAK2 p.Asp2846=
c.8538C>T · rs182892317 · VCV2644698
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.47%, sas)
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 -20 | GERP -0.78 |
| Overall | ||
| CADD | 0.651 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.47%
South Asian · 1,337/90,984 alleles
Filtering AF
1.4%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.38%
Overall
0.289%
4,655/1,611,788 alleles · low-frequency
exomes 4,312/1,461,236 · genomes 343/150,552 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 1.47% | 68 |
| Middle Eastern | 0.762% | 131 |
| Remaining individualsnot grpmax-eligible | 0.303% | 330 |
| Ashkenazi Jewishnot grpmax-eligible | 0.247% | 405 |
| European (non-Finnish) | 0.236% | 424 |
| Admixed American | 0.155% | 643 |
| African / African-American | 0.144% | 696 |
| Finnishnot grpmax-eligible | 0.0391% | 2,557 |
| East Asian | 0.00895% | 11,169 |
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
- AHNAK2
- Protein
- p.Asp2846=
- Coding
- c.8538C>T
- MANE Select
- NM_138420
- dbSNP
- rs182892317
- Type
- single nucleotide variant
- Location
- chr14:104946913 (GRCh38)
- Gene constraint
- LOEUF 0.917 · pLI <0.01 (gnomAD)
Similar variants
- AHNAK2 p.Asp2846Glu Uncertain significance ★ ⚠ same residue
- AHNAK2 p.Glu3598Lys Uncertain significance ★★ ⚠ same type
- AHNAK2 p.Gly4376Ser Uncertain significance ★★ ⚠ same type
- AHNAK2 p.Lys2479Arg Uncertain significance ★★ ⚠ same type
- AHNAK2 p.Lys3309Asn Uncertain significance ★★ ⚠ same type
- AHNAK2 p.Val1351Met Uncertain significance ★★ ⚠ same type
- AHNAK2 p.Ala1115Val Benign/Likely benign ★★ same type
- AHNAK2 p.Ala1323Thr 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/ahnak2-p-asp2846 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown