rs2857766
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_206809.4(MOG):c.511G>C(p.Val171Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.217 in 1,610,262 control chromosomes in the GnomAD database, including 40,265 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_206809.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MOG | NM_206809.4 | c.511G>C | p.Val171Leu | missense_variant | 3/8 | ENST00000376917.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MOG | ENST00000376917.8 | c.511G>C | p.Val171Leu | missense_variant | 3/8 | 1 | NM_206809.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.194 AC: 29517AN: 151918Hom.: 3155 Cov.: 31
GnomAD3 exomes AF: 0.222 AC: 54792AN: 246528Hom.: 6857 AF XY: 0.216 AC XY: 29005AN XY: 134334
GnomAD4 exome AF: 0.220 AC: 320474AN: 1458228Hom.: 37109 Cov.: 32 AF XY: 0.217 AC XY: 157182AN XY: 725530
GnomAD4 genome ? AF: 0.194 AC: 29520AN: 152034Hom.: 3156 Cov.: 31 AF XY: 0.195 AC XY: 14464AN XY: 74302
ClinVar
Submissions by phenotype
MOG-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 28, 2019 | 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). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at