chr19-4117482-C-G
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_030662.4(MAP2K2):c.240G>C(p.Ala80=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. A80A) has been classified as Likely benign.
Frequency
Consequence
NM_030662.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MAP2K2 | NM_030662.4 | c.240G>C | p.Ala80= | synonymous_variant | 2/11 | ENST00000262948.10 | |
MAP2K2 | XM_006722799.3 | c.240G>C | p.Ala80= | synonymous_variant | 2/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAP2K2 | ENST00000262948.10 | c.240G>C | p.Ala80= | synonymous_variant | 2/11 | 1 | NM_030662.4 | P1 | |
MAP2K2 | ENST00000394867.9 | n.679G>C | non_coding_transcript_exon_variant | 1/10 | 5 | ||||
MAP2K2 | ENST00000599345.1 | n.437G>C | non_coding_transcript_exon_variant | 2/7 | 5 | ||||
MAP2K2 | ENST00000687128.1 | n.679G>C | non_coding_transcript_exon_variant | 1/7 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 36
GnomAD4 genome Cov.: 33
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.