11-82982186-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001286060.2(RAB30):c.591G>T(p.Leu197Phe) variant causes a missense change. The variant allele was found at a frequency of 0.00000124 in 1,614,054 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001286060.2 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 |
---|---|---|---|---|---|---|---|---|
RAB30 | NM_001286060.2 | c.591G>T | p.Leu197Phe | missense_variant | Exon 5 of 5 | ENST00000527633.6 | NP_001272989.1 | |
RAB30 | NM_001286059.2 | c.591G>T | p.Leu197Phe | missense_variant | Exon 5 of 5 | NP_001272988.1 | ||
RAB30 | NM_001286061.1 | c.591G>T | p.Leu197Phe | missense_variant | Exon 5 of 5 | NP_001272990.1 | ||
RAB30 | NM_014488.5 | c.591G>T | p.Leu197Phe | missense_variant | Exon 6 of 6 | NP_055303.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152202Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251074Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135664
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461852Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727232
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152202Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74348
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.591G>T (p.L197F) alteration is located in exon 6 (coding exon 4) of the RAB30 gene. This alteration results from a G to T substitution at nucleotide position 591, causing the leucine (L) at amino acid position 197 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at