ANKRD36C p.Leu768Ser
c.2303T>C · rs150256107 · VCV2651132
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0792%, 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 -1.6 | GERP -2.8 |
| Overall | ||
| CADD | 0.215 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0792%
Middle Eastern · 4/5,052 alleles
Filtering AF
0.0429%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.036%
Overall
0.0349%
486/1,391,908 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0792% | 1,263 |
| East Asian | 0.064% | 1,562 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0505% | 1,981 |
| Remaining individualsnot grpmax-eligible | 0.0384% | 2,605 |
| European (non-Finnish) | 0.037% | 2,701 |
| South Asian | 0.0358% | 2,790 |
| Admixed American | 0.0233% | 4,297 |
| Finnishnot grpmax-eligible | 0.0106% | 9,420 |
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.Leu768Ser
- Coding
- c.2303T>C
- MANE Select
- NM_001393982
- dbSNP
- rs150256107
- Type
- single nucleotide variant
- Location
- chr2:95919777 (GRCh38)
- Gene constraint
- LOEUF 0.34 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 52.44
- Residue 768
- 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.Asp742= 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
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-leu768ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown