5-41008678-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_173489.5(MROH2B):c.3536T>A(p.Leu1179His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L1179P) has been classified as Likely benign.
Frequency
Consequence
NM_173489.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MROH2B | NM_173489.5 | c.3536T>A | p.Leu1179His | missense_variant | 33/42 | ENST00000399564.5 | |
MROH2B | XM_011513952.2 | c.3536T>A | p.Leu1179His | missense_variant | 33/43 | ||
MROH2B | XM_011513953.2 | c.3350T>A | p.Leu1117His | missense_variant | 32/41 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MROH2B | ENST00000399564.5 | c.3536T>A | p.Leu1179His | missense_variant | 33/42 | 1 | NM_173489.5 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 63
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at