CCDC77 p.Ala34=
c.102A>G · rs35234577 · VCV2642563
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.854%, nfe)
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 -0.89 | GERP -4.7, phastCons 0.002 |
| Overall | ||
| CADD | 0.824 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.854%
European (non-Finnish) · 10,076/1,180,000 alleles
Filtering AF
0.84%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.834%
Overall
0.684%
11,034/1,614,088 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.854% | 117 |
| Remaining individualsnot grpmax-eligible | 0.634% | 158 |
| Amishnot grpmax-eligible | 0.548% | 182 |
| Admixed American | 0.408% | 245 |
| Middle Eastern | 0.28% | 357 |
| Finnishnot grpmax-eligible | 0.194% | 516 |
| Ashkenazi Jewishnot grpmax-eligible | 0.172% | 580 |
| African / African-American | 0.149% | 670 |
| South Asian | 0.00659% | 15,178 |
| East Asian | 0.00446% | 22,439 |
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
- CCDC77
- Protein
- p.Ala34=
- Coding
- c.102A>G
- MANE Select
- NM_032358
- dbSNP
- rs35234577
- Type
- single nucleotide variant
- Location
- chr12:411810 (GRCh38)
- Gene constraint
- LOEUF 1.077 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 80.42
- Residue 34
- the 'disordered' region
Similar variants
- CCDC77 p.Ala157Pro Uncertain significance ★ ⚠ same type
- CCDC77 p.Ala194Gly Uncertain significance ★ ⚠ same type
- CCDC77 p.Ala445Pro Uncertain significance ★ ⚠ same type
- CCDC77 p.Arg134Leu Uncertain significance ★ ⚠ same type
- CCDC77 p.Arg216Gly Uncertain significance ★ ⚠ same type
- CCDC77 p.Arg251Gln Uncertain significance ★ ⚠ same type
- CCDC77 p.Arg251Leu Uncertain significance ★ ⚠ same type
- CCDC77 p.Arg251Trp 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/ccdc77-p-ala34 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown