22-50265426-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_002751.7(MAPK11):c.910G>T(p.Ala304Ser) variant causes a missense 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. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002751.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MAPK11 | NM_002751.7 | c.910G>T | p.Ala304Ser | missense_variant | Exon 11 of 12 | ENST00000330651.11 | NP_002742.3 | |
MAPK11 | XM_047441447.1 | c.586G>T | p.Ala196Ser | missense_variant | Exon 9 of 10 | XP_047297403.1 | ||
MAPK11 | NR_110887.2 | n.998G>T | non_coding_transcript_exon_variant | Exon 11 of 13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MAPK11 | ENST00000330651.11 | c.910G>T | p.Ala304Ser | missense_variant | Exon 11 of 12 | 1 | NM_002751.7 | ENSP00000333685.6 | ||
MAPK11 | ENST00000395764.5 | n.910G>T | non_coding_transcript_exon_variant | Exon 11 of 13 | 1 | ENSP00000379113.1 | ||||
MAPK11 | ENST00000417877.1 | n.*422G>T | non_coding_transcript_exon_variant | Exon 11 of 12 | 5 | ENSP00000409136.1 | ||||
MAPK11 | ENST00000417877.1 | n.*422G>T | 3_prime_UTR_variant | Exon 11 of 12 | 5 | ENSP00000409136.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.910G>T (p.A304S) alteration is located in exon 11 (coding exon 11) of the MAPK11 gene. This alteration results from a G to T substitution at nucleotide position 910, causing the alanine (A) at amino acid position 304 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.