CCDC136 p.Ala687=
c.2061C>T · rs61743943 · VCV791272
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.14%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.009 | strongly benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -3.3 | |
| Overall | ||
| CADD | 0.652 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.14%
African / African-American · 1,589/74,240 alleles
Filtering AF
2.05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.02%
Overall
0.109%
1,740/1,602,078 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.14% | 47 |
| Remaining individualsnot grpmax-eligible | 0.123% | 813 |
| Admixed American | 0.109% | 914 |
| Middle Eastern | 0.0334% | 2,994 |
| South Asian | 0.00673% | 14,851 |
| European (non-Finnish) | 0.00034% | 293,769 |
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
- CCDC136
- Protein
- p.Ala687=
- Coding
- c.2061C>T
- MANE Select
- NM_022742
- dbSNP
- rs61743943
- Type
- single nucleotide variant
- Location
- chr7:128811832 (GRCh38)
- Gene constraint
- LOEUF 0.924 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 69.24
Similar variants
- CCDC136 p.Asp218His Benign ★★ ⚠ same type
- CCDC136 p.Glu1087= Benign ★★ same type
- CCDC136 p.Glu1097Gly Likely benign ★★ ⚠ same type
- CCDC136 p.Gly221= Benign ★★ same type
- CCDC136 p.Gly980Arg Benign ★★ same type
- CCDC136 p.Leu616= Benign ★★ same type
- CCDC136 p.Val432Ile Benign ★★ same type
- CCDC136 p.Ala862Val 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/ccdc136-p-ala687 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown