7-73842026-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_152559.3(METTL27):c.115T>C(p.Tyr39His) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152559.3 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 |
---|---|---|---|---|---|---|---|---|
METTL27 | NM_152559.3 | c.115T>C | p.Tyr39His | missense_variant | Exon 2 of 6 | ENST00000297873.9 | NP_689772.2 | |
METTL27 | XM_017011777.2 | c.115T>C | p.Tyr39His | missense_variant | Exon 2 of 6 | XP_016867266.1 | ||
METTL27 | XM_017011778.2 | c.115T>C | p.Tyr39His | missense_variant | Exon 2 of 6 | XP_016867267.1 | ||
METTL27 | XR_001744563.2 | n.146T>C | non_coding_transcript_exon_variant | Exon 2 of 7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
METTL27 | ENST00000297873.9 | c.115T>C | p.Tyr39His | missense_variant | Exon 2 of 6 | 1 | NM_152559.3 | ENSP00000297873.4 | ||
METTL27 | ENST00000458679.5 | n.115T>C | non_coding_transcript_exon_variant | Exon 2 of 5 | 4 | ENSP00000398533.1 | ||||
METTL27 | ENST00000493174.1 | n.146T>C | non_coding_transcript_exon_variant | Exon 2 of 4 | 2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.115T>C (p.Y39H) alteration is located in exon 2 (coding exon 1) of the WBSCR27 gene. This alteration results from a T to C substitution at nucleotide position 115, causing the tyrosine (Y) at amino acid position 39 to be replaced by a histidine (H). 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.