5-170789190-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_014211.3(GABRP):c.115C>T(p.Pro39Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000031 in 1,614,042 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. P39T) has been classified as Uncertain significance.
Frequency
Consequence
NM_014211.3 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 |
---|---|---|---|---|---|---|---|---|
GABRP | NM_014211.3 | c.115C>T | p.Pro39Ser | missense_variant | Exon 3 of 10 | ENST00000265294.9 | NP_055026.1 | |
GABRP | NM_001291985.2 | c.115C>T | p.Pro39Ser | missense_variant | Exon 3 of 9 | NP_001278914.1 | ||
GABRP | XM_024446012.2 | c.115C>T | p.Pro39Ser | missense_variant | Exon 3 of 10 | XP_024301780.1 | ||
GABRP | XM_005265872.2 | c.-66+522C>T | intron_variant | Intron 1 of 7 | XP_005265929.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152172Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000795 AC: 2AN: 251470Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135910
GnomAD4 exome AF: 0.0000315 AC: 46AN: 1461870Hom.: 0 Cov.: 30 AF XY: 0.0000330 AC XY: 24AN XY: 727242
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152172Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74344
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at