rs769194
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_000845.3(GRM8):āc.29C>Gā(p.Ser10Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000546 in 1,611,230 control chromosomes in the GnomAD database, including 9 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_000845.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GRM8 | NM_000845.3 | c.29C>G | p.Ser10Cys | missense_variant | 2/11 | ENST00000339582.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GRM8 | ENST00000339582.7 | c.29C>G | p.Ser10Cys | missense_variant | 2/11 | 5 | NM_000845.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00124 AC: 188AN: 152190Hom.: 3 Cov.: 32
GnomAD3 exomes AF: 0.00227 AC: 563AN: 247916Hom.: 7 AF XY: 0.00168 AC XY: 225AN XY: 134196
GnomAD4 exome AF: 0.000474 AC: 691AN: 1458922Hom.: 6 Cov.: 31 AF XY: 0.000380 AC XY: 276AN XY: 725834
GnomAD4 genome AF: 0.00123 AC: 188AN: 152308Hom.: 3 Cov.: 32 AF XY: 0.00158 AC XY: 118AN XY: 74474
ClinVar
Submissions by phenotype
GRM8-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Jun 15, 2020 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 31, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at