ANKRD36 p.Cys445=
c.1335T>C · rs199723612 · VCV2651161
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.234%, mid)
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 0.85 | phastCons 0.001 |
| Overall | ||
| CADD | 6.461 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.234%
Middle Eastern · 14/5,984 alleles
Filtering AF
0.141%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.113%
Overall
0.0553%
850/1,536,038 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.234% | 427 |
| Ashkenazi Jewishnot grpmax-eligible | 0.101% | 988 |
| Remaining individualsnot grpmax-eligible | 0.0651% | 1,536 |
| European (non-Finnish) | 0.0612% | 1,633 |
| South Asian | 0.0417% | 2,398 |
| Admixed American | 0.0393% | 2,543 |
| African / African-American | 0.0123% | 8,114 |
| East Asian | 0.00246% | 40,624 |
| Finnishnot grpmax-eligible | 0.0022% | 45,536 |
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
- ANKRD36
- Protein
- p.Cys445=
- Coding
- c.1335T>C
- MANE Select
- NM_001354587
- dbSNP
- rs199723612
- Type
- single nucleotide variant
- Location
- chr2:97158601 (GRCh38)
- Gene constraint
- LOEUF 1.132 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 50.82
Similar variants
- ANKRD36 c.2173-3A>C Likely benign ★ same type
- ANKRD36 c.-4G>C Likely benign ★ same type
- ANKRD36 p.Ala228= Likely benign ★ same type
- ANKRD36 p.Asp404= Likely benign ★ same type
- ANKRD36 p.Asp558= Likely benign ★ same type
- ANKRD36 p.Cys1792= Likely benign ★ same type
- ANKRD36 p.Gly1189= Likely benign ★ same type
- ANKRD36 p.Gly295= 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/ankrd36-p-cys445 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown