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):āc.1187C>Gā(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.
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MAP2K2 | NM_030662.4 | c.1187C>G | p.Thr396Arg | missense_variant | Exon 11 of 11 | ENST00000262948.10 | NP_109587.1 | |
MAP2K2 | XM_006722799.3 | c.908C>G | p.Thr303Arg | missense_variant | Exon 9 of 9 | XP_006722862.1 | ||
MAP2K2 | XM_047439100.1 | c.617C>G | p.Thr206Arg | missense_variant | Exon 9 of 9 | XP_047295056.1 |
Ensembl
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