rs2071653

chr6-29668151-T-C

Variant summary

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

The NM_206809.4(MOG):c.592+227T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.795 in 152,178 control chromosomes in the GnomAD database, including 48,389 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 0.80 (48389 hom., cov: 33)
• Consequence: MOG NM_206809.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.756

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=-0.96).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.837 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
MOG	NM_206809.4	c.592+227T>C		intron_variant		ENST00000376917.8

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
MOG	ENST00000376917.8	c.592+227T>C		intron_variant		1	NM_206809.4	P1

Frequencies

GnomAD3 genomes AF: 0.795 AC: 120947 AN: 152060 Hom.: 48343 Cov.: 33

Gnomad AFR AF: 0.811

Gnomad AMI AF: 0.782

Gnomad AMR AF: 0.849

Gnomad ASJ AF: 0.822

Gnomad EAS AF: 0.849

Gnomad SAS AF: 0.765

Gnomad FIN AF: 0.656

Gnomad MID AF: 0.774

Gnomad NFE AF: 0.792

Gnomad OTH AF: 0.799

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

GnomAD4 genome AF: 0.795 AC: 121052 AN: 152178 Hom.: 48389 Cov.: 33 AF XY: 0.791 AC XY: 58857 AN XY: 74404

Gnomad4 AFR AF: 0.811

Gnomad4 AMR AF: 0.849

Gnomad4 ASJ AF: 0.822

Gnomad4 EAS AF: 0.849

Gnomad4 SAS AF: 0.765

Gnomad4 FIN AF: 0.656

Gnomad4 NFE AF: 0.792

Gnomad4 OTH AF: 0.801

Alfa AF: 0.798 Hom.: 79444

Bravo AF: 0.813

Asia WGS AF: 0.829 AC: 2885 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
Cadd	Benign	0.11
Dann	Benign	0.57

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: rs2071653; hg19: chr6-29635928;