ANKRD6 p.Ser123=
c.369A>G · rs61744890 · VCV784092
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 2.09%, 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 -0.44 | GERP -2.4 |
| Overall | ||
| CADD | 5.854 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.09%
African / African-American · 1,561/74,736 alleles
Filtering AF
2%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.97%
Overall
0.108%
1,723/1,595,724 alleles · low-frequency
exomes 842/1,443,434 · genomes 881/152,290 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.09% | 48 |
| Admixed American | 0.116% | 863 |
| Remaining individualsnot grpmax-eligible | 0.0938% | 1,066 |
| Middle Eastern | 0.0664% | 1,506 |
| European (non-Finnish) | 0.00282% | 35,481 |
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.Ser123=
- Coding
- c.369A>G
- MANE Select
- NM_001242809
- dbSNP
- rs61744890
- Type
- single nucleotide variant
- Location
- chr6:89606057 (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-ser123 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown