ENST00000503687.2:n.397+47592A>C
Variant names:
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The ENST00000503687.2(ENSG00000284461):n.397+47061C>. variant causes a intron change. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 N/A ( N/A hom., cov: )
Exomes 𝑓: N/A ( N/A hom. )
Consequence
ENSG00000284461
ENST00000503687.2 intron
ENST00000503687.2 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
No conservation score assigned
Genes affected
RABGEF1 (HGNC:17676): (RAB guanine nucleotide exchange factor 1) RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and it serves as a specific guanine nucleotide exchange factor (GEF) for RAB5 (RAB5A; MIM 179512) (Horiuchi et al., 1997 [PubMed 9323142]).[supplied by OMIM, Mar 2010]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|
| RABGEF1 | NM_001367741.1 | c.-18+31364C>. | intron_variant | Intron 1 of 9 | NP_001354670.1 | |||
| RABGEF1 | NM_001367737.1 | c.-98-14779C>. | intron_variant | Intron 1 of 9 | NP_001354666.1 | |||
| RABGEF1 | NM_001367738.1 | c.-99+3732C>. | intron_variant | Intron 1 of 9 | NP_001354667.1 |
Ensembl
Frequencies
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
We have no GnomAD4 genomes data on this position. Probably position not covered by the project.
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Name
Calibrated prediction
Score
Prediction
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.