22-29315074-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006477.5(RASL10A):c.173G>A(p.Arg58His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,180 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006477.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RASL10A | NM_006477.5 | c.173G>A | p.Arg58His | missense_variant | Exon 1 of 3 | ENST00000216101.7 | NP_006468.1 | |
RASL10A | XM_011529822.1 | c.279+791G>A | intron_variant | Intron 2 of 3 | XP_011528124.1 | |||
RASL10A | XM_011529823.2 | c.76-1087G>A | intron_variant | Intron 1 of 2 | XP_011528125.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RASL10A | ENST00000216101.7 | c.173G>A | p.Arg58His | missense_variant | Exon 1 of 3 | 1 | NM_006477.5 | ENSP00000216101.6 | ||
RASL10A | ENST00000401450.3 | c.173G>A | p.Arg58His | missense_variant | Exon 1 of 2 | 2 | ENSP00000386095.3 | |||
RASL10A | ENST00000608559.1 | n.372-1087G>A | intron_variant | Intron 1 of 2 | 5 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152180Hom.: 0 Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1369406Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 674780
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152180Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74346
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.173G>A (p.R58H) alteration is located in exon 1 (coding exon 1) of the RASL10A gene. This alteration results from a G to A substitution at nucleotide position 173, causing the arginine (R) at amino acid position 58 to be replaced by a histidine (H). 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