chr4-86552623-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000513839.5(MAPK10):c.-182+41287C>G variant causes a intron, NMD transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000659 in 151,772 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
Consequence
ENST00000513839.5 intron, NMD_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MAPK10 | XM_047415964.1 | c.36+41287C>G | intron_variant | ||||
MAPK10 | XM_047415965.1 | c.36+41287C>G | intron_variant | ||||
MAPK10 | XM_047415966.1 | c.36+41287C>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAPK10 | ENST00000513839.5 | c.-182+41287C>G | intron_variant, NMD_transcript_variant | 1 | |||||
MAPK10 | ENST00000502302.6 | c.-263+41287C>G | intron_variant | 4 | |||||
MAPK10 | ENST00000512046.2 | c.-122+41110C>G | intron_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151772Hom.: 0 Cov.: 30
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151772Hom.: 0 Cov.: 30 AF XY: 0.0000135 AC XY: 1AN XY: 74112
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at