chr6-29666235-A-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_206809.4(MOG):c.520A>G(p.Ile174Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.925 in 1,611,296 control chromosomes in the GnomAD database, including 689,855 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.520A>G | p.Ile174Val | missense_variant | 3/8 | ENST00000376917.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MOG | ENST00000376917.8 | c.520A>G | p.Ile174Val | missense_variant | 3/8 | 1 | NM_206809.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.948 AC: 144112AN: 152034Hom.: 68408 Cov.: 29
GnomAD3 exomes AF: 0.949 AC: 233912AN: 246482Hom.: 111147 AF XY: 0.950 AC XY: 127537AN XY: 134312
GnomAD4 exome AF: 0.922 AC: 1345753AN: 1459144Hom.: 621386 Cov.: 42 AF XY: 0.924 AC XY: 671118AN XY: 725974
GnomAD4 genome ? AF: 0.948 AC: 144232AN: 152152Hom.: 68469 Cov.: 29 AF XY: 0.950 AC XY: 70633AN XY: 74376
ClinVar
Submissions by phenotype
MOG-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 17, 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