STAR p.Ile245=
c.735C>T · rs779693521 · VCV1117256
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00329%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.38 | donor loss, 9 bp away · masked 0 · deltas |
|---|---|---|
| Pangolin | Δ0.30 | loss · gain 0.00 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 0.26 | GERP -4.6, phastCons 0.39 |
| Overall | ||
| CADD | 6.263 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00329%
South Asian · 3/91,092 alleles
Filtering AF
0.000875%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000443%
Overall
0.000496%
8/1,613,958 alleles · very rare
exomes 7/1,461,846 · genomes 1/152,112 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.00329% | 30,364 |
| East Asian | 0.00223% | 44,890 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,480 |
| African / African-American | 0.00134% | 74,894 |
| European (non-Finnish) | 0.000169% | 590,012 |
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
- STAR
- Protein
- p.Ile245=
- Coding
- c.735C>T
- MANE Select
- NM_000349
- dbSNP
- rs779693521
- Type
- single nucleotide variant
- Location
- chr8:38145231 (GRCh38)
- Gene constraint
- LOEUF 1.297 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.71 · 4 PDB
- Residue 245
- the start domain
Similar variants
- STAR c.178+1G>C Likely pathogenic ★★ same type
- STAR c.306+1G>A Likely pathogenic ★★ same type
- STAR c.307-1G>C Likely pathogenic ★★ same type
- STAR c.465+2T>C Pathogenic/Likely pathogenic ★★ same type
- STAR c.64+1G>A Pathogenic/Likely pathogenic ★★ same type
- STAR c.64+1G>T Pathogenic ★★ same type
- STAR p.Ala218Val Pathogenic ★★ same type
- STAR p.Arg182Cys Pathogenic ★★ 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/star-p-ile245 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown