chr17-78174868-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003258.5(TK1):c.596G>T(p.Gly199Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G199R) has been classified as Uncertain significance.
Frequency
Consequence
NM_003258.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TK1 | NM_003258.5 | c.596G>T | p.Gly199Val | missense_variant | Exon 7 of 7 | ENST00000301634.12 | NP_003249.3 | |
TK1 | NM_001363848.1 | c.695G>T | p.Gly232Val | missense_variant | Exon 6 of 6 | NP_001350777.1 | ||
TK1 | NM_001346663.2 | c.514-80G>T | intron_variant | Intron 6 of 6 | NP_001333592.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at