rs397517412
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_030662.4(MAP2K2):c.287_288delTCinsGT(p.Leu96Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar 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 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MAP2K2 | ENST00000262948.10 | c.287_288delTCinsGT | p.Leu96Arg | missense_variant | 1 | NM_030662.4 | ENSP00000262948.4 | |||
MAP2K2 | ENST00000394867.9 | n.726_727delTCinsGT | non_coding_transcript_exon_variant | Exon 1 of 10 | 5 | |||||
MAP2K2 | ENST00000599345.1 | n.484_485delTCinsGT | non_coding_transcript_exon_variant | Exon 2 of 7 | 5 | |||||
MAP2K2 | ENST00000687128.1 | n.726_727delTCinsGT | non_coding_transcript_exon_variant | Exon 1 of 7 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The Leu96Arg variant in MEK2 has not been reported in the literature nor previou sly identified in our laboratory. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Leu9 6Arg variant may impact the protein, though this information is not predictive e nough to determine pathogenicity. In summary, additional information is needed to fully assess the clinical significance of the Leu96Arg variant. -
not provided Uncertain:1
MAP2K2: PM2, PS2:Moderate -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at