6-29669933-C-G

Position:

• chr6-29669933-C-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_206809.4(MOG):​c.593-348C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.807 in 152,006 control chromosomes in the GnomAD database, including 49,721 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.81 (49721 hom., cov: 30)
• Consequence: MOG NM_206809.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.315

Genes affected

MOG (HGNC:7197): (myelin oligodendrocyte glycoprotein) The product of this gene is a membrane protein expressed on the oligodendrocyte cell surface and the outermost surface of myelin sheaths. Due to this localization, it is a primary target antigen involved in immune-mediated demyelination. This protein may be involved in completion and maintenance of the myelin sheath and in cell-cell communication. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.846 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
MOG	NM_206809.4	c.593-348C>G		intron_variant		ENST00000376917.8	NP_996532.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
MOG	ENST00000376917.8	c.593-348C>G		intron_variant		1	NM_206809.4	ENSP00000366115.3

Frequencies

GnomAD3 genomes AF: 0.807 AC: 122539 AN: 151892 Hom.: 49673 Cov.: 30

Gnomad AFR AF: 0.838

Gnomad AMI AF: 0.782

Gnomad AMR AF: 0.858

Gnomad ASJ AF: 0.822

Gnomad EAS AF: 0.856

Gnomad SAS AF: 0.825

Gnomad FIN AF: 0.656

Gnomad MID AF: 0.794

Gnomad NFE AF: 0.794

Gnomad OTH AF: 0.811

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.807 AC: 122644 AN: 152006 Hom.: 49721 Cov.: 30 AF XY: 0.803 AC XY: 59658 AN XY: 74282

Gnomad4 AFR AF: 0.837

Gnomad4 AMR AF: 0.858

Gnomad4 ASJ AF: 0.822

Gnomad4 EAS AF: 0.856

Gnomad4 SAS AF: 0.826

Gnomad4 FIN AF: 0.656

Gnomad4 NFE AF: 0.794

Gnomad4 OTH AF: 0.813

Alfa AF: 0.761 Hom.: 2597

Bravo AF: 0.824

Asia WGS AF: 0.855 AC: 2973 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.4
DANN	Benign	0.81

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs3095291; hg19: chr6-29637710;