1-178094500-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_170692.4(RASAL2):c.8T>G(p.Leu3Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000045 in 1,555,080 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_170692.4 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 |
---|---|---|---|---|---|---|---|---|
RASAL2 | NM_170692.4 | c.8T>G | p.Leu3Arg | missense_variant | Exon 1 of 18 | ENST00000367649.8 | NP_733793.2 | |
RASAL2 | XM_011510166.3 | c.8T>G | p.Leu3Arg | missense_variant | Exon 1 of 19 | XP_011508468.1 | ||
RASAL2 | XM_011510167.3 | c.8T>G | p.Leu3Arg | missense_variant | Exon 1 of 18 | XP_011508469.1 | ||
RASAL2 | XM_047434837.1 | c.8T>G | p.Leu3Arg | missense_variant | Exon 1 of 19 | XP_047290793.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152196Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000131 AC: 2AN: 152328Hom.: 0 AF XY: 0.0000241 AC XY: 2AN XY: 82892
GnomAD4 exome AF: 0.00000428 AC: 6AN: 1402884Hom.: 0 Cov.: 32 AF XY: 0.00000433 AC XY: 3AN XY: 692902
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152196Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.8T>G (p.L3R) alteration is located in exon 1 (coding exon 1) of the RASAL2 gene. This alteration results from a T to G substitution at nucleotide position 8, causing the leucine (L) at amino acid position 3 to be replaced by an arginine (R). 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