MARVELD2 p.Asp111fs
c.330del · VCV4970621
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
MARVELD2-related disorders
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 2 of 7 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.9 | GERP 2.7, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- MARVELD2
- Protein
- p.Asp111fs
- Coding
- c.330del
- MANE Select
- NM_001038603
- Type
- Deletion
- Location
- chr5:69419714 (GRCh38)
- Gene constraint
- LOEUF 0.993 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 66.90 · 3 PDB
Disease context
MARVELD2-related disorders
Similar variants
- MARVELD2 p.Val169fs Likely pathogenic ★ same condition
- MARVELD2 p.Asp111Asn Likely benign ★ same residue
- MARVELD2 c.1331+2T>C Pathogenic/Likely pathogenic ★★ same condition
- MARVELD2 p.Arg317Ter Pathogenic/Likely pathogenic ★★ same condition
- MARVELD2 p.Arg455Ter Likely pathogenic ★★ same condition
- MARVELD2 p.Arg500Ter Pathogenic/Likely pathogenic ★★ same condition
- MARVELD2 p.Phe294fs Likely pathogenic ★★ same type
- MARVELD2 c.1332-1del 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/marveld2-p-asp111fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown