19-4090614-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM1PM2PP3
The NM_030662.4(MAP2K2):c.1187C>G(p.Thr396Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000143 in 1,399,846 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T396M) has been classified as Uncertain significance.
Frequency
Consequence
NM_030662.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MAP2K2 | NM_030662.4 | c.1187C>G | p.Thr396Arg | missense_variant | 11/11 | ENST00000262948.10 | |
MAP2K2 | XM_006722799.3 | c.908C>G | p.Thr303Arg | missense_variant | 9/9 | ||
MAP2K2 | XM_047439100.1 | c.617C>G | p.Thr206Arg | missense_variant | 9/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAP2K2 | ENST00000262948.10 | c.1187C>G | p.Thr396Arg | missense_variant | 11/11 | 1 | NM_030662.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000631 AC: 1AN: 158546Hom.: 0 AF XY: 0.0000119 AC XY: 1AN XY: 83928
GnomAD4 exome AF: 0.00000143 AC: 2AN: 1399846Hom.: 0 Cov.: 31 AF XY: 0.00000290 AC XY: 2AN XY: 690742
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at