16-30116846-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BS1BS2
The NM_001040056.3(MAPK3):c.1065G>A(p.Gly355Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000924 in 1,613,164 control chromosomes in the GnomAD database, including 17 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_001040056.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MAPK3 | NM_002746.3 | c.1017+48G>A | intron_variant | Intron 7 of 8 | ENST00000263025.9 | NP_002737.2 | ||
MAPK3 | NM_001040056.3 | c.1065G>A | p.Gly355Gly | synonymous_variant | Exon 7 of 7 | NP_001035145.1 | ||
MAPK3 | NM_001109891.2 | c.885+48G>A | intron_variant | Intron 6 of 7 | NP_001103361.1 | |||
MAPK3 | XR_243293.2 | n.1028+48G>A | intron_variant | Intron 7 of 9 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00498 AC: 757AN: 152106Hom.: 7 Cov.: 31
GnomAD3 exomes AF: 0.00131 AC: 322AN: 246546Hom.: 3 AF XY: 0.000864 AC XY: 116AN XY: 134280
GnomAD4 exome AF: 0.000502 AC: 733AN: 1460940Hom.: 10 Cov.: 32 AF XY: 0.000422 AC XY: 307AN XY: 726758
GnomAD4 genome AF: 0.00497 AC: 757AN: 152224Hom.: 7 Cov.: 31 AF XY: 0.00506 AC XY: 377AN XY: 74438
ClinVar
Submissions by phenotype
MAPK3-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at