1-93133724-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_007358.4(MTF2):c.1182A>C(p.Glu394Asp) 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. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_007358.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MTF2 | NM_007358.4 | c.1182A>C | p.Glu394Asp | missense_variant | 12/15 | ENST00000370298.9 | |
MTF2 | NM_001164392.2 | c.1011A>C | p.Glu337Asp | missense_variant | 11/14 | ||
MTF2 | NM_001164391.2 | c.876A>C | p.Glu292Asp | missense_variant | 13/16 | ||
MTF2 | NM_001164393.2 | c.876A>C | p.Glu292Asp | missense_variant | 10/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MTF2 | ENST00000370298.9 | c.1182A>C | p.Glu394Asp | missense_variant | 12/15 | 1 | NM_007358.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
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.