rs12200969
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_002042.5(GABRR1):c.76A>G(p.Met26Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.349 in 1,613,406 control chromosomes in the GnomAD database, including 102,638 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_002042.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GABRR1 | NM_002042.5 | c.76A>G | p.Met26Val | missense_variant | 1/10 | ENST00000454853.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GABRR1 | ENST00000454853.7 | c.76A>G | p.Met26Val | missense_variant | 1/10 | 1 | NM_002042.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.362 AC: 55014AN: 151886Hom.: 10590 Cov.: 31
GnomAD3 exomes AF: 0.306 AC: 77006AN: 251254Hom.: 13150 AF XY: 0.308 AC XY: 41855AN XY: 135794
GnomAD4 exome AF: 0.348 AC: 508108AN: 1461402Hom.: 92039 Cov.: 36 AF XY: 0.346 AC XY: 251218AN XY: 727012
GnomAD4 genome ? AF: 0.362 AC: 55052AN: 152004Hom.: 10599 Cov.: 31 AF XY: 0.357 AC XY: 26501AN XY: 74308
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at