19-40780496-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PP3_Strong
The NM_016154.5(RAB4B):āc.209T>Gā(p.Phe70Cys) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. F70L) has been classified as Uncertain significance.
Frequency
Consequence
NM_016154.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RAB4B | NM_016154.5 | c.209T>G | p.Phe70Cys | missense_variant | 3/8 | ENST00000357052.8 | |
MIA-RAB4B | NR_037775.1 | n.571T>G | non_coding_transcript_exon_variant | 5/10 | |||
RAB4B-EGLN2 | NR_037791.1 | n.366T>G | non_coding_transcript_exon_variant | 3/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RAB4B | ENST00000357052.8 | c.209T>G | p.Phe70Cys | missense_variant | 3/8 | 1 | NM_016154.5 | P1 | |
ENST00000595728.2 | n.992-605A>C | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.000440 AC: 643AN: 1460456Hom.: 0 Cov.: 31 AF XY: 0.000424 AC XY: 308AN XY: 726492
GnomAD4 genome Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.