rs201584759
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_014211.3(GABRP):c.421C>A(p.Arg141Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic 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. R141C) has been classified as Uncertain significance.
Frequency
Consequence
NM_014211.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GABRP | NM_014211.3 | c.421C>A | p.Arg141Ser | missense_variant | Exon 5 of 10 | ENST00000265294.9 | NP_055026.1 | |
GABRP | NM_001291985.2 | c.421C>A | p.Arg141Ser | missense_variant | Exon 5 of 9 | NP_001278914.1 | ||
GABRP | XM_024446012.2 | c.421C>A | p.Arg141Ser | missense_variant | Exon 5 of 10 | XP_024301780.1 | ||
GABRP | XM_005265872.2 | c.184C>A | p.Arg62Ser | missense_variant | Exon 3 of 8 | XP_005265929.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 30
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.