ANKRD36C p.Asp742=
c.2226T>C · rs200558089 · VCV2651133
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.589%, 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 -0.58 | GERP -2.2 |
| Overall | ||
| CADD | 0.717 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.589%
African / African-American · 440/74,664 alleles
Filtering AF
0.544%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.526%
Overall
0.104%
1,681/1,608,760 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.589% | 170 |
| Admixed American | 0.526% | 190 |
| Ashkenazi Jewishnot grpmax-eligible | 0.417% | 240 |
| Middle Eastern | 0.371% | 269 |
| Remaining individualsnot grpmax-eligible | 0.204% | 490 |
| European (non-Finnish) | 0.0541% | 1,848 |
| South Asian | 0.0199% | 5,037 |
| Finnishnot grpmax-eligible | 0.00157% | 63,774 |
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
- ANKRD36C
- Protein
- p.Asp742=
- Coding
- c.2226T>C
- MANE Select
- NM_001393982
- dbSNP
- rs200558089
- Type
- single nucleotide variant
- Location
- chr2:95921626 (GRCh38)
- Gene constraint
- LOEUF 0.34 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 52.44
- Residue 742
- the 'disordered' region
Similar variants
- ANKRD36C p.Asp1960His Conflicting classifications of pathogenicity ★ ⚠ same type
- ANKRD36C p.Asp1068= Likely benign ★ same type
- ANKRD36C p.Asp2046Asn Likely benign ★ same type
- ANKRD36C p.Asp966= Likely benign ★ same type
- ANKRD36C p.Gln2014= Likely benign ★ same type
- ANKRD36C p.His1888= Likely benign ★ same type
- ANKRD36C p.Ile1666= Likely benign ★ same type
- ANKRD36C p.Ile1918Leu 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/ankrd36c-p-asp742 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown