5-170805751-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_014211.3(GABRP):c.577C>G(p.Leu193Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000062 in 1,614,038 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar 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 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GABRP | NM_014211.3 | c.577C>G | p.Leu193Val | missense_variant | Exon 7 of 10 | ENST00000265294.9 | NP_055026.1 | |
GABRP | NM_001291985.2 | c.577C>G | p.Leu193Val | missense_variant | Exon 7 of 9 | NP_001278914.1 | ||
GABRP | XM_024446012.2 | c.577C>G | p.Leu193Val | missense_variant | Exon 7 of 10 | XP_024301780.1 | ||
GABRP | XM_005265872.2 | c.340C>G | p.Leu114Val | missense_variant | Exon 5 of 8 | XP_005265929.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000986 AC: 15AN: 152172Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000636 AC: 16AN: 251434Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135892
GnomAD4 exome AF: 0.0000581 AC: 85AN: 1461866Hom.: 0 Cov.: 31 AF XY: 0.0000481 AC XY: 35AN XY: 727238
GnomAD4 genome AF: 0.0000986 AC: 15AN: 152172Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74328
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.577C>G (p.L193V) alteration is located in exon 7 (coding exon 6) of the GABRP gene. This alteration results from a C to G substitution at nucleotide position 577, causing the leucine (L) at amino acid position 193 to be replaced by a valine (V). 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