FREM2 p.Val795fs
c.2383_2387del · VCV4777761
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
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 1 of 24 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.57 | GERP -5.1, phastCons 0.99 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- FREM2
- Protein
- p.Val795fs
- Coding
- c.2383_2387del
- MANE Select
- NM_207361
- Type
- Deletion
- Location
- chr13:38689724 (GRCh38)
- Gene constraint
- LOEUF 0.588 · pLI <0.01 (gnomAD)
- Residue 795
- a UniProt-annotated variant site (in cryptop)
Similar variants
- FREM2 p.Val795Met Uncertain significance ★ ⚠ same residue
- FREM2 p.Ala1996fs Pathogenic/Likely pathogenic ★★ same type
- FREM2 p.Gln1190fs Pathogenic/Likely pathogenic ★★ same type
- FREM2 p.His945fs Pathogenic/Likely pathogenic ★★ same type
- FREM2 p.Leu2493fs Pathogenic/Likely pathogenic ★★ same type
- FREM2 c.6379+19del Benign/Likely benign ★★ same type
- FREM2 c.7520-5del Benign/Likely benign ★★ same type
- FREM2 c.7520-6_7520-2del Likely 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/frem2-p-val795fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown