ANK3 p.Ser2671=
c.8013C>T · rs41274674 · VCV128378
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Common
common (popmax 5.93%, afr) — too common for a highly-penetrant pathogenic allele
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 6.7 | GERP 4.7, phastCons 1 |
| Overall | ||
| CADD | 7.653 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
5.93%
African / African-American · 4,448/74,978 alleles
Filtering AF
5.79%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 5.73%
Overall
4.06%
65,606/1,614,026 alleles · common
exomes 59,038/1,461,824 · genomes 6,568/152,202 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 5.93% | 17 |
| Finnishnot grpmax-eligible | 5.53% | 18 |
| European (non-Finnish) | 4.39% | 23 |
| Remaining individualsnot grpmax-eligible | 3.76% | 27 |
| Amishnot grpmax-eligible | 3.62% | 28 |
| Ashkenazi Jewishnot grpmax-eligible | 3.26% | 31 |
| Middle Eastern | 2.86% | 35 |
| Admixed American | 1.95% | 51 |
| South Asian | 1.19% | 84 |
| East Asian | 0.00446% | 22,434 |
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
- ANK3
- Protein
- p.Ser2671=
- Coding
- c.8013C>T
- MANE Select
- NM_020987
- dbSNP
- rs41274674
- Type
- single nucleotide variant
- Location
- chr10:60072868 (GRCh38)
- Gene constraint
- LOEUF 0.16 · pLI 1.00 (gnomAD)
- Residue 2671
- the 'disordered' region
Similar variants
- ANK3 c.2382+6C>T Uncertain significance ★★ same type
- ANK3 p.Ala1461Thr Uncertain significance ★★ ⚠ same type
- ANK3 p.Ala1534Val Uncertain significance ★★ same type
- ANK3 p.Ala1630Val Uncertain significance ★★ ⚠ same type
- ANK3 p.Ala169Thr Uncertain significance ★★ same type
- ANK3 p.Ala2023Thr Uncertain significance ★★ ⚠ same type
- ANK3 p.Ala218Thr Uncertain significance ★★ same type
- ANK3 p.Ala2223Thr 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/ank3-p-ser2671 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown