chr2-233776618-T-C

Position:

• chr2-233776618-T-C

Variant summary

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

The ENST00000428446.5(MROH2A):​c.-13+861T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.152 in 152,070 control chromosomes in the GnomAD database, including 1,847 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 0.15 (1847 hom., cov: 31)
• Consequence: MROH2A ENST00000428446.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.507

Genes affected

MROH2A (HGNC:27936): (maestro heat like repeat family member 2A) This gene encodes a HEAT-domain-containing protein. The function of the encoded protein has not been characterized. [provided by RefSeq, Aug 2016]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.196 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
MROH2A	NM_001367507.1	c.-15+861T>C		intron_variant			NP_001354436.1
MROH2A	XM_024452842.2	c.-15+861T>C		intron_variant			XP_024308610.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
MROH2A	ENST00000428446.5	c.-13+861T>C		intron_variant		1		ENSP00000404614
MROH2A	ENST00000430892.5	c.-15+861T>C		intron_variant		1		ENSP00000392128
MROH2A	ENST00000454283.1	c.-84+861T>C		intron_variant		1		ENSP00000409355
MROH2A	ENST00000610772.4	c.-15+861T>C		intron_variant		5		ENSP00000477597	P4

Frequencies

GnomAD3 genomes AF: 0.152 AC: 23119 AN: 151952 Hom.: 1838 Cov.: 31

Gnomad AFR AF: 0.159

Gnomad AMI AF: 0.0789

Gnomad AMR AF: 0.177

Gnomad ASJ AF: 0.156

Gnomad EAS AF: 0.207

Gnomad SAS AF: 0.200

Gnomad FIN AF: 0.151

Gnomad MID AF: 0.0854

Gnomad NFE AF: 0.136

Gnomad OTH AF: 0.159

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

GnomAD4 genome AF: 0.152 AC: 23162 AN: 152070 Hom.: 1847 Cov.: 31 AF XY: 0.153 AC XY: 11395 AN XY: 74336

Gnomad4 AFR AF: 0.160

Gnomad4 AMR AF: 0.178

Gnomad4 ASJ AF: 0.156

Gnomad4 EAS AF: 0.207

Gnomad4 SAS AF: 0.199

Gnomad4 FIN AF: 0.151

Gnomad4 NFE AF: 0.136

Gnomad4 OTH AF: 0.163

Alfa AF: 0.142 Hom.: 2685

Bravo AF: 0.152

Asia WGS AF: 0.210 AC: 731 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.0
DANN	Benign	0.52

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: rs10199882; hg19: chr2-234685264;