Genetic Information

Gene & Transcript Details

Gene
FBXO31
Transcript
NM_024735.5 MANE Select
Total Exons
—
Reference Sequence
NC_000016.9
Alternative Transcripts
IDStatusDetails
NM_024735.5 MANE Select 5953 nt | 33–1652
NM_024735.3 Alternative 3636 nt | 45–1664
NM_024735.2 Alternative 3635 nt | 24–1643
NM_024735.4 Alternative 5990 nt | 50–1669

Variant Details

HGVS Notation
NM_024735.5:c.1000G>A
Protein Change
D334N
Location
Exon 8 (Exon 8 of )
8
5'Exon Structure3'
Functional Consequence
Loss of Function
Alternate Identifiers
—

Clinical & Population Data

Population Frequency

gnomAD
Global Frequency
0.0 in 100,000
Extremely Rare
ACMG Criteria Applied PM2
This variant is absent or extremely rare in population databases (PM2 criteria applies).

ClinVar

Open
Classification
Likely Pathogenic
2 publications
Publications List
Clinical Statement

"This variant has been reported in ClinVar as Pathogenic (2 clinical laboratories) and as Likely pathogenic (1 clinical laboratories)."

COSMIC Somatic Evidence

Open
COSMIC ID
Recurrence
0 occurrences
PM1 Criteria
Not Applied
COSMIC Database Preview
COSMIC Preview
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Functional Impact & Domains

Functional Domain

Hotspot Status
Not a hotspot
Domain Summary
This variant is not located in a mutational hotspot or critical domain.
Related Variants in This Domain
No evidence of other pathogenic variants at this position in gene FBXO31.

Functional Studies & Therapeutic Relevance

Functional Summary

Error in OpenAI Consolidation. OncoKB: We do not have any information for this gene JAX-CKB: No results found

Database Previews
OncoKB
OncoKB Preview
JAX-CKB
JAX-CKB Preview

Click on previews to view full database entries. External databases may require institutional access.

Computational Analysis

Pathogenicity Predictions

SpliceAI
Predictor Consensus
Mixed/VUS
PP3 Applied
No
REVEL Score
0.0
Threshold: ≥0.75 = PP3 applied

SpliceAI Scores

Window: ±500bp
Effect Type Score Position
- Acceptor Loss (AL) 0.0 132 bp
- Donor Loss (DL) 0.01 220 bp
+ Acceptor Gain (AG) 0.02 -24 bp
+ Donor Gain (DG) 0.0 -128 bp
High impact (≥0.5) Medium impact (0.2-0.49) Low impact (<0.2)

VCEP Guidelines

Applied ACMG/AMP Criteria (VCEP Specific)

Filter Criteria:
PM2

PM2 (Unknown (Pre-LLM))

From pre-LLM assessment (LLM Failed)

PP5

PP5 (Unknown (Pre-LLM))

From pre-LLM assessment (LLM Failed)

BP4

BP4 (Unknown (Pre-LLM))

From pre-LLM assessment (LLM Failed)