ANKRD6 p.Lys702=
c.2106G>A · rs61745976 · VCV709412
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 4.47%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.9 | GERP 0.81, phastCons 1 |
| Overall | ||
| CADD | 2.922 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
4.47%
African / African-American · 3,352/74,974 alleles
Filtering AF
4.34%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.29%
Overall
0.235%
3,784/1,609,796 alleles · low-frequency
exomes 1,882/1,457,504 · genomes 1,902/152,292 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 4.47% | 22 |
| Remaining individualsnot grpmax-eligible | 0.341% | 293 |
| Admixed American | 0.279% | 359 |
| Middle Eastern | 0.149% | 673 |
| South Asian | 0.00664% | 15,065 |
| European (non-Finnish) | 0.00331% | 30,204 |
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
- ANKRD6
- Protein
- p.Lys702=
- Coding
- c.2106G>A
- MANE Select
- NM_001242809
- dbSNP
- rs61745976
- Type
- single nucleotide variant
- Location
- chr6:89630926 (GRCh38)
- Gene constraint
- LOEUF 0.869 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 70.82
Similar variants
- ANKRD6 p.Ala140Val Uncertain significance ★ ⚠ same type
- ANKRD6 p.Ala173Glu Uncertain significance ★ same type
- ANKRD6 p.Ala182Val Uncertain significance ★ ⚠ same type
- ANKRD6 p.Ala206Gly Uncertain significance ★ ⚠ same type
- ANKRD6 p.Ala206Thr Uncertain significance ★ ⚠ same type
- ANKRD6 p.Ala229Thr Uncertain significance ★ ⚠ same type
- ANKRD6 p.Ala262Val Uncertain significance ★ ⚠ same type
- ANKRD6 p.Ala390Ser 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/ankrd6-p-lys702 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown