TULP1 p.Arg103fs
c.307dup · rs2150928372 · VCV1453373
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
ultra-rare (gnomAD MAF 7.231e-07)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 4 of 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.6 | GERP -0.53, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
dbSNP / gnomAD
Global frequency
7.23e-05%
via dbSNP · ultra-rare
No ancestry breakdown or filtering allele frequency is available for this variant, so BA1/BS1 cannot be assessed from this figure alone.
Variant & gene context
- Gene
- TULP1
- Protein
- p.Arg103fs
- Coding
- c.307dup
- MANE Select
- NM_003322
- dbSNP
- rs2150928372
- Type
- Duplication
- Location
- chr6:35511689 (GRCh38)
- Gene constraint
- LOEUF 1.019 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 66.10 · 2 PDB
- Residue 103
- the 'disordered' region
Similar variants
- TULP1 p.Arg103Trp Uncertain significance ★ ⚠ same residue
- TULP1 p.Gln301fs Pathogenic/Likely pathogenic ★★ same type
- TULP1 p.Thr55fs Pathogenic/Likely pathogenic ★★ same type
- TULP1 p.Val286fs Pathogenic/Likely pathogenic ★★ same type
- TULP1 c.999+9_999+10dup Likely benign ★★ same type
- TULP1 c.1495+2dup Pathogenic ★ same type
- TULP1 p.Asn463fs Pathogenic ★ same type
- TULP1 p.Asp312fs 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/tulp1-p-arg103fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown