rs1555203557
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_013254.4(TBK1):āc.619A>Gā(p.Ile207Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,461,828 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as risk factor (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I207T) has been classified as Uncertain significance.
Frequency
Consequence
NM_013254.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TBK1 | NM_013254.4 | c.619A>G | p.Ile207Val | missense_variant | 6/21 | ENST00000331710.10 | |
TBK1 | XM_005268809.2 | c.619A>G | p.Ile207Val | missense_variant | 6/21 | ||
TBK1 | XM_005268810.2 | c.619A>G | p.Ile207Val | missense_variant | 6/21 | ||
TBK1 | XR_007063071.1 | n.718A>G | non_coding_transcript_exon_variant | 6/18 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TBK1 | ENST00000331710.10 | c.619A>G | p.Ile207Val | missense_variant | 6/21 | 1 | NM_013254.4 | P4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461828Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727218
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 Other:1
risk factor, no assertion criteria provided | literature only | OMIM | Mar 15, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at