1-178094575-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_170692.4(RASAL2):c.83C>T(p.Pro28Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000689 in 1,452,248 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P28Q) has been classified as Likely benign.
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.83C>T | p.Pro28Leu | missense_variant | Exon 1 of 18 | ENST00000367649.8 | NP_733793.2 | |
RASAL2 | XM_011510166.3 | c.83C>T | p.Pro28Leu | missense_variant | Exon 1 of 19 | XP_011508468.1 | ||
RASAL2 | XM_011510167.3 | c.83C>T | p.Pro28Leu | missense_variant | Exon 1 of 18 | XP_011508469.1 | ||
RASAL2 | XM_047434837.1 | c.83C>T | p.Pro28Leu | missense_variant | Exon 1 of 19 | XP_047290793.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.89e-7 AC: 1AN: 1452248Hom.: 0 Cov.: 32 AF XY: 0.00000139 AC XY: 1AN XY: 721734
GnomAD4 genome Cov.: 33
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.