rs70988830

chr5-41033829-C-CTATCTATCTATCTATCTATCTATTchr5-41033829-C-CTATCTATCTATCTATCTATTchr5-41033829-C-CTATCTATCTATCTATTchr5-41033829-C-CTATCTATCTATCTTATTchr5-41033829-C-CTATCTATCTATTchr5-41033829-C-CTATCTATCTTATTchr5-41033829-C-CTATCTATTchr5-41033829-C-CTATCTTATTchr5-41033829-C-CTATTchr5-41033829-C-CTTATCTATCTATTchr5-41033829-C-CTTATTchr5-41033829-C-CTTT

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The NM_173489.5(MROH2B):c.2241+8_2241+9insAATAGATAGATAGATAGATAGATA variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000685 in 146,062 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 0.0000068 (0 hom., cov: 0)
  • Exomes 𝑓: 8.5e-7 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: MROH2B NM_173489.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.238

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

Verdict is Uncertain_significance. Variant got 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
MROH2B	NM_173489.5	c.2241+8_2241+9insAATAGATAGATAGATAGATAGATA		intron_variant		ENST00000399564.5
MROH2B	XM_011513952.2	c.2241+8_2241+9insAATAGATAGATAGATAGATAGATA		intron_variant
MROH2B	XM_011513953.2	c.2055+8_2055+9insAATAGATAGATAGATAGATAGATA		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
MROH2B	ENST00000399564.5	c.2241+8_2241+9insAATAGATAGATAGATAGATAGATA		intron_variant		1	NM_173489.5	P1
MROH2B	ENST00000506092.6	c.906+8_906+9insAATAGATAGATAGATAGATAGATA		intron_variant		2
MROH2B	ENST00000503890.5	n.1203+8_1203+9insAATAGATAGATAGATAGATAGATA		intron_variant, non_coding_transcript_variant		2
MROH2B	ENST00000515297.5	n.1629+8_1629+9insAATAGATAGATAGATAGATAGATA		intron_variant, non_coding_transcript_variant		5

Frequencies

GnomAD3 genomes AF: 0.00000685 AC: 1 AN: 146062 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.00

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00

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: 0.0000151

Gnomad OTH AF: 0.00

GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 8.48e-7 AC: 1 AN: 1178834 Hom.: 0 Cov.: 30 AF XY: 0.00000170 AC XY: 1 AN XY: 586890

Gnomad4 AFR exome AF: 0.00

Gnomad4 AMR exome AF: 0.00

Gnomad4 ASJ exome AF: 0.00

Gnomad4 EAS exome AF: 0.00

Gnomad4 SAS exome AF: 0.00

Gnomad4 FIN exome AF: 0.00

Gnomad4 NFE exome AF: 0.00000113

Gnomad4 OTH exome AF: 0.00

GnomAD4 genome AF: 0.00000685 AC: 1 AN: 146062 Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0 AN XY: 71180

Gnomad4 AFR AF: 0.00

Gnomad4 AMR AF: 0.00

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.00

Gnomad4 FIN AF: 0.00

Gnomad4 NFE AF: 0.0000151

Gnomad4 OTH AF: 0.00

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs70988830; hg19: chr5-41033931;