rs781609607
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_022337.3(RAB38):c.457G>T(p.Val153Leu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V153I) has been classified as Uncertain significance.
Frequency
Consequence
NM_022337.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RAB38 | NM_022337.3 | c.457G>T | p.Val153Leu | missense_variant | Exon 2 of 3 | ENST00000243662.11 | NP_071732.1 | |
RAB38 | XM_017017455.3 | c.457G>T | p.Val153Leu | missense_variant | Exon 2 of 4 | XP_016872944.1 | ||
RAB38 | XM_017017456.3 | c.457G>T | p.Val153Leu | missense_variant | Exon 2 of 4 | XP_016872945.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RAB38 | ENST00000243662.11 | c.457G>T | p.Val153Leu | missense_variant | Exon 2 of 3 | 1 | NM_022337.3 | ENSP00000243662.5 | ||
RAB38 | ENST00000526372.1 | c.451G>T | p.Val151Leu | missense_variant | Exon 2 of 3 | 3 | ENSP00000433317.1 | |||
RAB38 | ENST00000531138.1 | c.250+25482G>T | intron_variant | Intron 1 of 1 | 2 | ENSP00000435340.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at