rs2942
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 0P and 19B. BP4_ModerateBP6_Very_StrongBP7BA1
The NM_001278064.2(GRM1):c.2793G>A(p.Lys931Lys) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.518 in 1,613,152 control chromosomes in the GnomAD database, including 218,066 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001278064.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.504 AC: 76545AN: 151844Hom.: 19359 Cov.: 32
GnomAD3 exomes AF: 0.504 AC: 126597AN: 251376Hom.: 32626 AF XY: 0.512 AC XY: 69552AN XY: 135872
GnomAD4 exome AF: 0.519 AC: 758842AN: 1461188Hom.: 198681 Cov.: 46 AF XY: 0.523 AC XY: 380004AN XY: 726938
GnomAD4 genome AF: 0.504 AC: 76608AN: 151964Hom.: 19385 Cov.: 32 AF XY: 0.502 AC XY: 37242AN XY: 74242
ClinVar
Submissions by phenotype
not provided Benign:3
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not specified Benign:2
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. -
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Autosomal recessive spinocerebellar ataxia 13 Benign:2
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Spinocerebellar ataxia 44 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at