NM_006745.5:c.144G>C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006745.5(MSMO1):āc.144G>Cā(p.Gln48His) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,286 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Uncertain significance in ClinVar.
Frequency
Consequence
NM_006745.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MSMO1 | NM_006745.5 | c.144G>C | p.Gln48His | missense_variant | Exon 2 of 6 | ENST00000261507.11 | NP_006736.1 | |
MSMO1 | XM_005263176.3 | c.144G>C | p.Gln48His | missense_variant | Exon 2 of 6 | XP_005263233.1 | ||
MSMO1 | NM_001017369.3 | c.-138-4275G>C | intron_variant | Intron 1 of 4 | NP_001017369.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461286Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726940
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.