NM_001382273.1:c.295C>T
Variant summary
Our verdict is Benign. The variant received -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001382273.1(TNK2):c.295C>T(p.Arg99Trp) variant causes a missense change. The variant allele was found at a frequency of 0.00305 in 1,613,722 control chromosomes in the GnomAD database, including 243 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R99Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_001382273.1 missense
Scores
Clinical Significance
Conservation
Publications
- infantile-onset mesial temporal lobe epilepsy with severe cognitive regressionInheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Benign. The variant received -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TNK2 | NM_001382273.1 | c.295C>T | p.Arg99Trp | missense_variant | Exon 4 of 16 | ENST00000672887.2 | NP_001369202.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TNK2 | ENST00000672887.2 | c.295C>T | p.Arg99Trp | missense_variant | Exon 4 of 16 | NM_001382273.1 | ENSP00000499899.1 |
Frequencies
GnomAD3 genomes AF: 0.00379 AC: 577AN: 152142Hom.: 35 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.00849 AC: 2124AN: 250090 AF XY: 0.00775 show subpopulations
GnomAD4 exome AF: 0.00298 AC: 4350AN: 1461462Hom.: 208 Cov.: 31 AF XY: 0.00286 AC XY: 2080AN XY: 727024 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.00380 AC: 578AN: 152260Hom.: 35 Cov.: 33 AF XY: 0.00461 AC XY: 343AN XY: 74438 show subpopulations
Age Distribution
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at