20-37179358-T-TGGCGCCGCCGGGTGAGGAGTTGCGCGTGG
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP6_Moderate
The NM_152503.8(MROH8):c.93_121dupCCACGCGCAACTCCTCACCCGGCGGCGCC(p.His41ProfsTer51) variant causes a frameshift change. Variant has been reported in ClinVar as Benign (★). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_152503.8 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MROH8 | ENST00000343811.10 | c.93_121dupCCACGCGCAACTCCTCACCCGGCGGCGCC | p.His41ProfsTer51 | frameshift_variant | Exon 2 of 25 | 1 | ENSP00000513568.1 |
Frequencies
GnomAD3 genomes Cov.: 0
GnomAD4 exome Cov.: 13
GnomAD4 genome Cov.: 0
ClinVar
Submissions by phenotype
not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at