4-165337817-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_006745.5(MSMO1):c.284G>C(p.Trp95Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000149 in 1,613,492 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006745.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MSMO1 | NM_006745.5 | c.284G>C | p.Trp95Ser | missense_variant | Exon 3 of 6 | ENST00000261507.11 | NP_006736.1 | |
MSMO1 | XM_005263176.3 | c.284G>C | p.Trp95Ser | missense_variant | Exon 3 of 6 | XP_005263233.1 | ||
MSMO1 | NM_001017369.3 | c.-110G>C | 5_prime_UTR_variant | Exon 2 of 5 | NP_001017369.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MSMO1 | ENST00000261507.11 | c.284G>C | p.Trp95Ser | missense_variant | Exon 3 of 6 | 1 | NM_006745.5 | ENSP00000261507.6 | ||
MSMO1 | ENST00000504317.1 | c.284G>C | p.Trp95Ser | missense_variant | Exon 3 of 5 | 1 | ENSP00000423633.1 | |||
MSMO1 | ENST00000507013.5 | c.284G>C | p.Trp95Ser | missense_variant | Exon 3 of 5 | 2 | ENSP00000425241.1 | |||
MSMO1 | ENST00000393766 | c.-110G>C | 5_prime_UTR_variant | Exon 2 of 5 | 2 | ENSP00000377361.2 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152140Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000319 AC: 8AN: 251148Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135736
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1461352Hom.: 0 Cov.: 31 AF XY: 0.0000151 AC XY: 11AN XY: 727004
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152140Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74320
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.284G>C (p.W95S) alteration is located in exon 3 (coding exon 2) of the MSMO1 gene. This alteration results from a G to C substitution at nucleotide position 284, causing the tryptophan (W) at amino acid position 95 to be replaced by a serine (S). 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