chr5-41033829-C-CTATCTATCTATCTTATT

Variant names:

• chr5-41033829-C-CTATCTATCTATCTTATT
• rs70988830
• NM_173489.5:c.2241+8_2241+9insAATAAGATAGATAGATA

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The NM_173489.5(MROH2B):​c.2241+8_2241+9insAATAAGATAGATAGATA variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000981 in 1,324,896 control chromosomes in the GnomAD database, with no homozygous occurrence. It is difficult to determine the true allele frequency of this variant because it is of type INS_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 0.000027 (0 hom., cov: 0)
  • Exomes 𝑓: 0.0000076 (0 hom.)
• Consequence: MROH2B NM_173489.5 splice_region, intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.238
• Publications: 3 publications found

Genes affected

MROH2B (HGNC:26857): (maestro heat like repeat family member 2B) Predicted to be involved in protein kinase A signaling. Predicted to be located in acrosomal vesicle and sperm midpiece. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_173489.5. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	MROH2B	NM_173489.5	MANE Select	c.2241+8_2241+9insAATAAGATAGATAGATA		splice_region intron	N/A	NP_775760.3

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	MROH2B	ENST00000399564.5	TSL:1 MANE Select	c.2241+8_2241+9insAATAAGATAGATAGATA		splice_region intron	N/A	ENSP00000382476.4	Q7Z745-1
	MROH2B	ENST00000506092.6	TSL:2	c.906+8_906+9insAATAAGATAGATAGATA		splice_region intron	N/A	ENSP00000441504.1	F5GZ06
	MROH2B	ENST00000503890.5	TSL:2	n.1203+8_1203+9insAATAAGATAGATAGATA		splice_region intron	N/A

Frequencies

GnomAD3 genomes AF: 0.0000274 AC: 4 AN: 146062 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.00

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.000136

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.0000301

Gnomad OTH AF: 0.00

GnomAD4 exome AF: 0.00000763 AC: 9 AN: 1178834 Hom.: 0 Cov.: 30 AF XY: 0.00000852 AC XY: 5 AN XY: 586890

African (AFR) AF: 0.00 AC: 0 AN: 27640

American (AMR) AF: 0.0000915 AC: 3 AN: 32796

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 22206

East Asian (EAS) AF: 0.00 AC: 0 AN: 34806

South Asian (SAS) AF: 0.00 AC: 0 AN: 70752

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 47382

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 5122

European-Non Finnish (NFE) AF: 0.00000676 AC: 6 AN: 887732

Other (OTH) AF: 0.00 AC: 0 AN: 50398

GnomAD4 genome AF: 0.0000274 AC: 4 AN: 146062 Hom.: 0 Cov.: 0 AF XY: 0.0000421 AC XY: 3 AN XY: 71180

African (AFR) AF: 0.00 AC: 0 AN: 38830

American (AMR) AF: 0.000136 AC: 2 AN: 14658

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 3336

East Asian (EAS) AF: 0.00 AC: 0 AN: 5058

South Asian (SAS) AF: 0.00 AC: 0 AN: 4578

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 10074

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 304

European-Non Finnish (NFE) AF: 0.0000301 AC: 2 AN: 66360

Other (OTH) AF: 0.00 AC: 0 AN: 1988

Alfa AF: 0.00 Hom.: 640

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		-0.24

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs70988830; hg19: chr5-41033931;