5-41033829-C-CTTATCTATCTATT

Variant names:

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

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+9insAATAGATAGATAA variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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: not found (cov: 0)
• 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.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
MROH2B	NM_173489.5	c.2241+8_2241+9insAATAGATAGATAA		splice_region_variant, intron_variant	Intron 22 of 41	ENST00000399564.5	NP_775760.3
MROH2B	XM_011513952.2	c.2241+8_2241+9insAATAGATAGATAA		splice_region_variant, intron_variant	Intron 22 of 42		XP_011512254.1
MROH2B	XM_011513953.2	c.2055+8_2055+9insAATAGATAGATAA		splice_region_variant, intron_variant	Intron 21 of 40		XP_011512255.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
MROH2B	ENST00000399564.5	c.2241+8_2241+9insAATAGATAGATAA		splice_region_variant, intron_variant	Intron 22 of 41	1	NM_173489.5	ENSP00000382476.4
MROH2B	ENST00000506092.6	c.906+8_906+9insAATAGATAGATAA		splice_region_variant, intron_variant	Intron 12 of 31	2		ENSP00000441504.1
MROH2B	ENST00000503890.5	n.1203+8_1203+9insAATAGATAGATAA		splice_region_variant, intron_variant	Intron 10 of 30	2
MROH2B	ENST00000515297.5	n.1629+8_1629+9insAATAGATAGATAA		splice_region_variant, intron_variant	Intron 16 of 35	5

Frequencies

GnomAD3 genomes Cov.: 0

GnomAD4 exome Cov.: 30

GnomAD4 genome Cov.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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;