rs1057519911
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM4
The NM_002745.5(MAPK1):c.964G>T(p.Glu322Ter) variant causes a stop gained, splice region change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_002745.5 stop_gained, splice_region
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MAPK1 | NM_002745.5 | c.964G>T | p.Glu322Ter | stop_gained, splice_region_variant | 7/9 | ENST00000215832.11 | |
MAPK1 | NM_138957.3 | c.964G>T | p.Glu322Ter | stop_gained, splice_region_variant | 7/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAPK1 | ENST00000215832.11 | c.964G>T | p.Glu322Ter | stop_gained, splice_region_variant | 7/9 | 1 | NM_002745.5 | P1 | |
MAPK1 | ENST00000398822.7 | c.964G>T | p.Glu322Ter | stop_gained, splice_region_variant | 7/8 | 1 | P1 | ||
MAPK1 | ENST00000544786.1 | c.832G>T | p.Glu278Ter | stop_gained, splice_region_variant | 6/7 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 29
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.