ARVCF p.Ile786=
c.2358C>T · rs116570619 · VCV773921
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 2.01%, 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 -0.78 | GERP -3.4 |
| Overall | ||
| CADD | 7.889 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.01%
East Asian · 901/44,762 alleles
Filtering AF
1.9%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.86%
Overall
0.0673%
1,084/1,610,958 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 2.01% | 50 |
| Remaining individualsnot grpmax-eligible | 0.125% | 800 |
| South Asian | 0.0783% | 1,278 |
| Middle Eastern | 0.0165% | 6,058 |
| African / African-American | 0.012% | 8,333 |
| Admixed American | 0.00669% | 14,943 |
| European (non-Finnish) | 0.0017% | 58,962 |
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
- ARVCF
- Protein
- p.Ile786=
- Coding
- c.2358C>T
- MANE Select
- NM_001670
- dbSNP
- rs116570619
- Type
- single nucleotide variant
- Location
- chr22:19973199 (GRCh38)
- Gene constraint
- LOEUF 1.032 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 65.73
- Residue 786
- the 'required for interaction with rna-binding proteins ddx5, hnrnph2 and srsf1 and with mrnas' region
Similar variants
- ARVCF p.Gly172Ser Uncertain significance ★★ ⚠ same type
- ARVCF p.Val958Ile Uncertain significance ★★ ⚠ same type
- ARVCF c.1396+18A>G Benign ★★ same type
- ARVCF c.1396+198C>T Benign ★★ same type
- ARVCF c.1396+40G>A Benign ★★ same type
- ARVCF c.1397-146G>A Benign ★★ same type
- ARVCF c.1397-7C>T Benign ★★ same type
- ARVCF c.1871-172A>C 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/arvcf-p-ile786 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown