NM_001318852.2:c.66C>T
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_001318852.2(MAPK8IP3):c.66C>T(p.Gly22Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00167 in 1,613,468 control chromosomes in the GnomAD database, including 33 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001318852.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MAPK8IP3 | NM_001318852.2 | c.66C>T | p.Gly22Gly | synonymous_variant | Exon 1 of 32 | ENST00000610761.2 | NP_001305781.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MAPK8IP3 | ENST00000610761.2 | c.66C>T | p.Gly22Gly | synonymous_variant | Exon 1 of 32 | 1 | NM_001318852.2 | ENSP00000481780.1 |
Frequencies
GnomAD3 genomes AF: 0.00839 AC: 1276AN: 152172Hom.: 19 Cov.: 32
GnomAD3 exomes AF: 0.00249 AC: 618AN: 247768Hom.: 11 AF XY: 0.00177 AC XY: 239AN XY: 134664
GnomAD4 exome AF: 0.000977 AC: 1428AN: 1461178Hom.: 14 Cov.: 31 AF XY: 0.000806 AC XY: 586AN XY: 726888
GnomAD4 genome AF: 0.00837 AC: 1274AN: 152290Hom.: 19 Cov.: 32 AF XY: 0.00833 AC XY: 620AN XY: 74470
ClinVar
Submissions by phenotype
not provided Benign:2
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MAPK8IP3-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