chr6-89265726-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_002043.5(GABRR2):c.776G>A(p.Arg259His) variant causes a missense change. The variant allele was found at a frequency of 0.0000576 in 1,613,896 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002043.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152038Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000955 AC: 24AN: 251430Hom.: 0 AF XY: 0.000155 AC XY: 21AN XY: 135884
GnomAD4 exome AF: 0.0000602 AC: 88AN: 1461858Hom.: 1 Cov.: 31 AF XY: 0.0000770 AC XY: 56AN XY: 727242
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152038Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74278
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.851G>A (p.R284H) alteration is located in exon 7 (coding exon 7) of the GABRR2 gene. This alteration results from a G to A substitution at nucleotide position 851, causing the arginine (R) at amino acid position 284 to be replaced by a histidine (H). 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