rs10199882

Variant names:

• chr2-233776618-T-C
• rs10199882
• ENST00000428446.5:c.-13+861T>C

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 8 publications found

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

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt
MROH2A	NM_001367507.1	c.-15+861T>C		intron_variant	Intron 1 of 41		NP_001354436.1
MROH2A	XM_024452842.2	c.-15+861T>C		intron_variant	Intron 1 of 41		XP_024308610.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
MROH2A	ENST00000428446.5	c.-13+861T>C		intron_variant	Intron 1 of 2	1		ENSP00000404614.1
MROH2A	ENST00000430892.5	c.-15+861T>C		intron_variant	Intron 1 of 2	1		ENSP00000392128.1
MROH2A	ENST00000454283.1	c.-84+861T>C		intron_variant	Intron 1 of 1	1		ENSP00000409355.1
MROH2A	ENST00000610772.4	c.-15+861T>C		intron_variant	Intron 1 of 41	5		ENSP00000477597.1

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

African (AFR) AF: 0.160 AC: 6621 AN: 41488

American (AMR) AF: 0.178 AC: 2714 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.156 AC: 542 AN: 3468

East Asian (EAS) AF: 0.207 AC: 1067 AN: 5162

South Asian (SAS) AF: 0.199 AC: 956 AN: 4812

European-Finnish (FIN) AF: 0.151 AC: 1595 AN: 10566

Middle Eastern (MID) AF: 0.0884 AC: 26 AN: 294

European-Non Finnish (NFE) AF: 0.136 AC: 9225 AN: 67970

Other (OTH) AF: 0.163 AC: 344 AN: 2112

Alfa AF: 0.144 Hom.: 6174

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
PhyloP100		-0.51

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

Other links and lift over

dbSNP: rs10199882; hg19: chr2-234685264;