chr5-41008655-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_173489.5(MROH2B):c.3559C>T(p.Arg1187Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000039 in 1,613,772 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
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.3559C>T | p.Arg1187Trp | missense_variant | 33/42 | ENST00000399564.5 | |
MROH2B | XM_011513952.2 | c.3559C>T | p.Arg1187Trp | missense_variant | 33/43 | ||
MROH2B | XM_011513953.2 | c.3373C>T | p.Arg1125Trp | missense_variant | 32/41 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MROH2B | ENST00000399564.5 | c.3559C>T | p.Arg1187Trp | missense_variant | 33/42 | 1 | NM_173489.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000164 AC: 25AN: 152156Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.0000442 AC: 11AN: 248798Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 134932
GnomAD4 exome AF: 0.0000260 AC: 38AN: 1461616Hom.: 0 Cov.: 31 AF XY: 0.0000220 AC XY: 16AN XY: 727074
GnomAD4 genome ? AF: 0.000164 AC: 25AN: 152156Hom.: 1 Cov.: 33 AF XY: 0.000175 AC XY: 13AN XY: 74334
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 20, 2021 | The c.3559C>T (p.R1187W) alteration is located in exon 33 (coding exon 33) of the MROH2B gene. This alteration results from a C to T substitution at nucleotide position 3559, causing the arginine (R) at amino acid position 1187 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at