rs4478147
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000513839.5(MAPK10):c.-182+41287C>T variant causes a intron, NMD transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.421 in 151,814 control chromosomes in the GnomAD database, including 15,729 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.42 ( 15729 hom., cov: 30)
Consequence
MAPK10
ENST00000513839.5 intron, NMD_transcript
ENST00000513839.5 intron, NMD_transcript
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.77
Genes affected
MAPK10 (HGNC:6872): (mitogen-activated protein kinase 10) The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system, and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.96).
BA1
?
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.683 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MAPK10 | XM_047415964.1 | c.36+41287C>T | intron_variant | ||||
MAPK10 | XM_047415965.1 | c.36+41287C>T | intron_variant | ||||
MAPK10 | XM_047415966.1 | c.36+41287C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAPK10 | ENST00000513839.5 | c.-182+41287C>T | intron_variant, NMD_transcript_variant | 1 | |||||
MAPK10 | ENST00000502302.6 | c.-263+41287C>T | intron_variant | 4 | |||||
MAPK10 | ENST00000512046.2 | c.-122+41110C>T | intron_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.421 AC: 63877AN: 151696Hom.: 15726 Cov.: 30
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GnomAD4 genome ? AF: 0.421 AC: 63897AN: 151814Hom.: 15729 Cov.: 30 AF XY: 0.429 AC XY: 31820AN XY: 74204
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ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at