rs1057519807
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PM1PM2PM5PP3_Strong
The NM_030662.4(MAP2K2):c.373T>G(p.Cys125Gly) variant causes a missense 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. 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. C125S) has been classified as Likely pathogenic.
Frequency
Consequence
NM_030662.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MAP2K2 | NM_030662.4 | c.373T>G | p.Cys125Gly | missense_variant | 3/11 | ENST00000262948.10 | |
MAP2K2 | XM_006722799.3 | c.373T>G | p.Cys125Gly | missense_variant | 3/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAP2K2 | ENST00000262948.10 | c.373T>G | p.Cys125Gly | missense_variant | 3/11 | 1 | NM_030662.4 | P1 | |
MAP2K2 | ENST00000394867.9 | n.812T>G | non_coding_transcript_exon_variant | 2/10 | 5 | ||||
MAP2K2 | ENST00000599345.1 | n.570T>G | non_coding_transcript_exon_variant | 3/7 | 5 | ||||
MAP2K2 | ENST00000687128.1 | n.812T>G | non_coding_transcript_exon_variant | 2/7 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
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.