rs70988830
Positions:
- chr5-41033829-C-CTATCTATCTATCTATCTATCTATT
- chr5-41033829-C-CTATCTATCTATCTATCTATT
- chr5-41033829-C-CTATCTATCTATCTATT
- chr5-41033829-C-CTATCTATCTATCTTATT
- chr5-41033829-C-CTATCTATCTATT
- chr5-41033829-C-CTATCTATCTTATT
- chr5-41033829-C-CTATCTATT
- chr5-41033829-C-CTATCTTATT
- chr5-41033829-C-CTATT
- chr5-41033829-C-CTTATCTATCTATT
- chr5-41033829-C-CTTATT
- chr5-41033829-C-CTTT
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The ENST00000399564.5(MROH2B):c.2241+8_2241+9insAATAGATAGATAGATAGATAGATA variant causes a intron change involving the alteration of a non-conserved nucleotide. 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
ENST00000399564.5 intron
ENST00000399564.5 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.238
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MROH2B | NM_173489.5 | c.2241+8_2241+9insAATAGATAGATAGATAGATAGATA | intron_variant | ENST00000399564.5 | NP_775760.3 | |||
MROH2B | XM_011513952.2 | c.2241+8_2241+9insAATAGATAGATAGATAGATAGATA | intron_variant | XP_011512254.1 | ||||
MROH2B | XM_011513953.2 | c.2055+8_2055+9insAATAGATAGATAGATAGATAGATA | intron_variant | XP_011512255.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MROH2B | ENST00000399564.5 | c.2241+8_2241+9insAATAGATAGATAGATAGATAGATA | intron_variant | 1 | NM_173489.5 | ENSP00000382476 | P1 | |||
MROH2B | ENST00000506092.6 | c.906+8_906+9insAATAGATAGATAGATAGATAGATA | intron_variant | 2 | ENSP00000441504 | |||||
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: 1AN: 146062Hom.: 0 Cov.: 0
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GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 8.48e-7 AC: 1AN: 1178834Hom.: 0 Cov.: 30 AF XY: 0.00000170 AC XY: 1AN XY: 586890
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GnomAD4 genome AF: 0.00000685 AC: 1AN: 146062Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 71180
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ClinVar
Not reported inComputational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at