rs757240576
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_030662.4(MAP2K2):c.814G>T(p.Ala272Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000138 in 1,454,386 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_030662.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MAP2K2 | NM_030662.4 | c.814G>T | p.Ala272Ser | missense_variant | 7/11 | ENST00000262948.10 | NP_109587.1 | |
MAP2K2 | XM_047439100.1 | c.244G>T | p.Ala82Ser | missense_variant | 5/9 | XP_047295056.1 | ||
MAP2K2 | XM_006722799.3 | c.705+1713G>T | intron_variant | XP_006722862.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000427 AC: 1AN: 233976Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 127494
GnomAD4 exome AF: 0.00000138 AC: 2AN: 1454386Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 722916
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at