rs9784064

Variant names:

• chr2-233777318-G-A
• rs9784064
• ENST00000428446.5:c.-13+1561G>A

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000428446.5(MROH2A):​c.-13+1561G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0731 in 152,174 control chromosomes in the GnomAD database, including 1,106 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 0.073 (1106 hom., cov: 32)
• Consequence: MROH2A ENST00000428446.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.278
• Publications: 3 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 (AFR) allele frequency at 95% confidence interval = 0.214 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000428446.5. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	MROH2A	NM_001367507.1		c.-15+1561G>A		intron	N/A	NP_001354436.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	MROH2A	ENST00000428446.5	TSL:1	c.-13+1561G>A		intron	N/A	ENSP00000404614.1
	MROH2A	ENST00000430892.5	TSL:1	c.-15+1561G>A		intron	N/A	ENSP00000392128.1
	MROH2A	ENST00000454283.1	TSL:1	c.-84+1561G>A		intron	N/A	ENSP00000409355.1

Frequencies

GnomAD3 genomes AF: 0.0731 AC: 11120 AN: 152056 Hom.: 1104 Cov.: 32

Gnomad AFR AF: 0.218

Gnomad AMI AF: 0.00219

Gnomad AMR AF: 0.0289

Gnomad ASJ AF: 0.00864

Gnomad EAS AF: 0.000385

Gnomad SAS AF: 0.00766

Gnomad FIN AF: 0.0299

Gnomad MID AF: 0.0316

Gnomad NFE AF: 0.0168

Gnomad OTH AF: 0.0584

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

GnomAD4 genome AF: 0.0731 AC: 11131 AN: 152174 Hom.: 1106 Cov.: 32 AF XY: 0.0701 AC XY: 5218 AN XY: 74394

African (AFR) AF: 0.218 AC: 9024 AN: 41452

American (AMR) AF: 0.0288 AC: 440 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.00864 AC: 30 AN: 3472

East Asian (EAS) AF: 0.000386 AC: 2 AN: 5180

South Asian (SAS) AF: 0.00808 AC: 39 AN: 4826

European-Finnish (FIN) AF: 0.0299 AC: 317 AN: 10610

Middle Eastern (MID) AF: 0.0340 AC: 10 AN: 294

European-Non Finnish (NFE) AF: 0.0168 AC: 1145 AN: 68022

Other (OTH) AF: 0.0578 AC: 122 AN: 2112

Alfa AF: 0.0374 Hom.: 1021

Bravo AF: 0.0804

Asia WGS AF: 0.0140 AC: 50 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	3.1
DANN	Benign	0.73
PhyloP100		-0.28

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: rs9784064; hg19: chr2-234685964; COSMIC: COSV59397041; COSMIC: COSV59397041;