chr6-89180447-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_002042.5(GABRR1):c.991G>A(p.Val331Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000192 in 1,613,870 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002042.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152136Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 250968Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135620
GnomAD4 exome AF: 0.0000198 AC: 29AN: 1461734Hom.: 0 Cov.: 31 AF XY: 0.0000206 AC XY: 15AN XY: 727180
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152136Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74302
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.991G>A (p.V331M) alteration is located in exon 9 (coding exon 9) of the GABRR1 gene. This alteration results from a G to A substitution at nucleotide position 991, causing the valine (V) at amino acid position 331 to be replaced by a methionine (M). 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