chr1-206728758-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PP3BS2
The NM_032960.4(MAPKAPK2):c.328C>T(p.Arg110Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000477 in 1,613,726 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032960.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MAPKAPK2 | ENST00000367103.4 | c.328C>T | p.Arg110Trp | missense_variant | Exon 2 of 10 | 1 | NM_032960.4 | ENSP00000356070.4 | ||
MAPKAPK2 | ENST00000294981.8 | c.328C>T | p.Arg110Trp | missense_variant | Exon 2 of 10 | 1 | ENSP00000294981.4 | |||
MAPKAPK2 | ENST00000493447.1 | n.-176C>T | upstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152212Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000563 AC: 14AN: 248506Hom.: 0 AF XY: 0.0000371 AC XY: 5AN XY: 134940
GnomAD4 exome AF: 0.0000472 AC: 69AN: 1461514Hom.: 0 Cov.: 32 AF XY: 0.0000426 AC XY: 31AN XY: 727060
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152212Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74370
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.328C>T (p.R110W) alteration is located in exon 2 (coding exon 2) of the MAPKAPK2 gene. This alteration results from a C to T substitution at nucleotide position 328, causing the arginine (R) at amino acid position 110 to be replaced by a tryptophan (W). 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