AK7 p.Arg623=
c.1869G>C · rs573077188 · VCV2972016
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0357%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.016 | strongly benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
| Constraint at this position | ||
| Conservation | phyloP -0.14 | GERP -2.7 |
| Overall | ||
| CADD | 6.348 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0357%
East Asian · 16/44,878 alleles
Filtering AF
0.0223%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0182%
Overall
0.00118%
19/1,614,190 alleles · ultra-rare
exomes 17/1,461,858 · genomes 2/152,332 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0357% | 2,805 |
| Remaining individualsnot grpmax-eligible | 0.0048% | 20,837 |
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
- AK7
- Protein
- p.Arg623=
- Coding
- c.1869G>C
- MANE Select
- NM_152327
- dbSNP
- rs573077188
- Type
- single nucleotide variant
- Location
- chr14:96483114 (GRCh38)
- Gene constraint
- LOEUF 0.945 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.35
Similar variants
- AK7 p.Arg623Gln Uncertain significance ★ ⚠ same residue
- AK7 p.Arg623Trp Uncertain significance ★ ⚠ same residue
- AK7 p.Ala626Val Uncertain significance ★★ ⚠ same type
- AK7 p.Ala675Val Uncertain significance ★★ ⚠ same type
- AK7 p.Arg108His Uncertain significance ★★ ⚠ same type
- AK7 p.Arg341Gln Uncertain significance ★★ ⚠ same type
- AK7 p.Arg552Gln Uncertain significance ★★ ⚠ same type
- AK7 p.Arg629Gln Uncertain significance ★★ ⚠ 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/ak7-p-arg623 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown