13-29487975-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001033602.4(MTUS2):c.3475C>G(p.Leu1159Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001033602.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MTUS2 | NM_001033602.4 | c.3475C>G | p.Leu1159Val | missense_variant | Exon 11 of 16 | ENST00000612955.6 | NP_001028774.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MTUS2 | ENST00000612955.6 | c.3475C>G | p.Leu1159Val | missense_variant | Exon 11 of 16 | 5 | NM_001033602.4 | ENSP00000483729.2 | ||
MTUS2 | ENST00000380808.6 | c.412C>G | p.Leu138Val | missense_variant | Exon 4 of 9 | 1 | ENSP00000370186.2 | |||
MTUS2 | ENST00000542829.1 | c.142C>G | p.Leu48Val | missense_variant | Exon 3 of 8 | 1 | ENSP00000445403.1 | |||
MTUS2-AS1 | ENST00000323380.7 | n.654G>C | non_coding_transcript_exon_variant | Exon 2 of 4 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3505C>G (p.L1169V) alteration is located in exon 9 (coding exon 9) of the MTUS2 gene. This alteration results from a C to G substitution at nucleotide position 3505, causing the leucine (L) at amino acid position 1169 to be replaced by a valine (V). 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
Publications
No publications associated with this variant yet.