GeneBe

ENST00000503687.2:n.397+49185A>G

Variant names:

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The ENST00000503687.2(ENSG00000284461):​n.397+48654G>. variant causes a intron change. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

GnomAD MNV: 𝑓 N/A
Genomes: 𝑓 N/A ( N/A hom., cov: )
Exomes 𝑓: N/A ( N/A hom. )

Consequence

ENSG00000284461
ENST00000503687.2 intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

No conservation score assigned

Publications

No publications found
Variant links:
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 was made for transcript

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
RABGEF1NM_001367741.1 linkc.-18+32957G>. intron_variant Intron 1 of 9 NP_001354670.1
RABGEF1NM_001367737.1 linkc.-98-13186G>. intron_variant Intron 1 of 9 NP_001354666.1
RABGEF1NM_001367738.1 linkc.-99+5325G>. intron_variant Intron 1 of 9 NP_001354667.1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
ENSG00000284461ENST00000503687.2 linkn.397+48654G>. intron_variant Intron 3 of 12 2 ENSP00000421074.1 E9PHB8
RABGEF1ENST00000607882.5 linkn.-873+5325G>. intron_variant Intron 1 of 9 2 ENSP00000476796.1 V9GYI8

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 in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

Name
Calibrated prediction
Score
Prediction

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

Other links and lift over

hg19: chr7-66152570; API