chr2-130182451-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_025029.5(MZT2B):āc.169A>Cā(p.Lys57Gln) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.00000356 in 1,403,900 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_025029.5 missense, splice_region
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MZT2B | NM_025029.5 | c.169A>C | p.Lys57Gln | missense_variant, splice_region_variant | 1/3 | ENST00000281871.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MZT2B | ENST00000281871.11 | c.169A>C | p.Lys57Gln | missense_variant, splice_region_variant | 1/3 | 1 | NM_025029.5 | A2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000356 AC: 5AN: 1403900Hom.: 0 Cov.: 35 AF XY: 0.00000144 AC XY: 1AN XY: 693310
GnomAD4 genome Cov.: 33
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.