rs3748988
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 3P and 4B. PM2PP2BP4_Strong
The NM_001303052.2(MYT1L):c.345T>G(p.Asp115Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. D115D) has been classified as Benign.
Frequency
Consequence
NM_001303052.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYT1L | NM_001303052.2 | c.345T>G | p.Asp115Glu | missense_variant | 9/25 | ENST00000647738.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYT1L | ENST00000647738.2 | c.345T>G | p.Asp115Glu | missense_variant | 9/25 | NM_001303052.2 |
Frequencies
GnomAD3 genomes ? Cov.: 27
GnomAD4 exome Cov.: 28
GnomAD4 genome ? Cov.: 27
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at