chr9-27474595-T-G

Position:

• chr9-27474595-T-G

Variant summary

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

The ENST00000262244.6(MOB3B):​c.-198-18847A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.665 in 152,098 control chromosomes in the GnomAD database, including 37,047 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 0.67 (37047 hom., cov: 32)
• Consequence: MOB3B ENST00000262244.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.34

Genes affected

MOB3B (HGNC:23825): (MOB kinase activator 3B) The protein encoded by this gene shares similarity with the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. This gene is located on the opposite strand as the interferon kappa precursor (IFNK) gene. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.823 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
MOB3B	NM_024761.5	c.-198-18847A>C		intron_variant		ENST00000262244.6	NP_079037.3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
MOB3B	ENST00000262244.6	c.-198-18847A>C		intron_variant		1	NM_024761.5	ENSP00000262244	P1

Frequencies

GnomAD3 genomes AF: 0.666 AC: 101206 AN: 151980 Hom.: 37061 Cov.: 32

Gnomad AFR AF: 0.341

Gnomad AMI AF: 0.773

Gnomad AMR AF: 0.705

Gnomad ASJ AF: 0.722

Gnomad EAS AF: 0.579

Gnomad SAS AF: 0.690

Gnomad FIN AF: 0.817

Gnomad MID AF: 0.778

Gnomad NFE AF: 0.829

Gnomad OTH AF: 0.723

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

GnomAD4 genome AF: 0.665 AC: 101214 AN: 152098 Hom.: 37047 Cov.: 32 AF XY: 0.667 AC XY: 49636 AN XY: 74370

Gnomad4 AFR AF: 0.341

Gnomad4 AMR AF: 0.704

Gnomad4 ASJ AF: 0.722

Gnomad4 EAS AF: 0.579

Gnomad4 SAS AF: 0.691

Gnomad4 FIN AF: 0.817

Gnomad4 NFE AF: 0.829

Gnomad4 OTH AF: 0.720

Alfa AF: 0.787 Hom.: 49349

Bravo AF: 0.640

Asia WGS AF: 0.589 AC: 2049 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	5.3
DANN	Benign	0.61

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: rs7866248; hg19: chr9-27474593;