1-174241506-T-A
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001366446.1(RABGAP1L):c.566T>A(p.Val189Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000482 in 1,451,166 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/22 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001366446.1 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RABGAP1L | NM_001366446.1 | c.566T>A | p.Val189Glu | missense_variant | Exon 5 of 26 | ENST00000681986.1 | NP_001353375.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RABGAP1L | ENST00000681986.1 | c.566T>A | p.Val189Glu | missense_variant | Exon 5 of 26 | NM_001366446.1 | ENSP00000507884.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000482 AC: 7AN: 1451166Hom.: 0 Cov.: 30 AF XY: 0.00000554 AC XY: 4AN XY: 721930 show subpopulations
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.566T>A (p.V189E) alteration is located in exon 1 (coding exon 1) of the RABGAP1L gene. This alteration results from a T to A substitution at nucleotide position 566, causing the valine (V) at amino acid position 189 to be replaced by a glutamic acid (E). 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