CGA p.Asn76=
c.228C>T · rs148435935 · VCV736145
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.377%, eas)
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 -0.35 | GERP -2.9, phastCons 0.003 |
| Overall | ||
| CADD | 2.057 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.377%
East Asian · 169/44,886 alleles
Filtering AF
0.33%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.312%
Overall
0.0157%
253/1,614,024 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.377% | 266 |
| Remaining individualsnot grpmax-eligible | 0.0384% | 2,604 |
| Admixed American | 0.00833% | 12,000 |
| European (non-Finnish) | 0.00424% | 23,599 |
| African / African-American | 0.004% | 25,012 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,590 |
| South Asian | 0.0011% | 91,052 |
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
- CGA
- Protein
- p.Asn76=
- Coding
- c.228C>T
- MANE Select
- NM_000735
- dbSNP
- rs148435935
- Type
- single nucleotide variant
- Location
- chr6:87086295 (GRCh38)
- Gene constraint
- LOEUF 0.796 · pLI 0.68 (gnomAD)
- Structure
- AlphaFold pLDDT 91.81 · 18 PDB
- Residue 76
- a β-strand; a disulfide bond
Similar variants
- CGA c.274-6C>T Benign ★ same type
- CGA p.Leu65= 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/cga-p-asn76 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown