rs74542605
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000171.4(GLRA1):c.23G>T(p.Arg8Leu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/21 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. R8P) has been classified as Likely benign.
Frequency
Consequence
NM_000171.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GLRA1 | NM_000171.4 | c.23G>T | p.Arg8Leu | missense_variant | 1/9 | ENST00000274576.9 | |
GLRA1 | NM_001146040.2 | c.23G>T | p.Arg8Leu | missense_variant | 1/9 | ||
GLRA1 | NM_001292000.2 | c.-99G>T | 5_prime_UTR_variant | 1/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GLRA1 | ENST00000274576.9 | c.23G>T | p.Arg8Leu | missense_variant | 1/9 | 1 | NM_000171.4 | P4 | |
GLRA1 | ENST00000455880.2 | c.23G>T | p.Arg8Leu | missense_variant | 1/9 | 1 | A1 | ||
GLRA1 | ENST00000471351.2 | n.306G>T | non_coding_transcript_exon_variant | 1/8 | 1 | ||||
GLRA1 | ENST00000462581.6 | c.23G>T | p.Arg8Leu | missense_variant, NMD_transcript_variant | 1/8 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 30
GnomAD4 exome Cov.: 27
GnomAD4 genome ? Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at