8-9556112-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003747.3(TNKS):c.173C>G(p.Ser58Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000187 in 1,600,796 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S58A) has been classified as Uncertain significance.
Frequency
Consequence
NM_003747.3 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 |
---|---|---|---|---|---|---|---|---|
TNKS | NM_003747.3 | c.173C>G | p.Ser58Cys | missense_variant | Exon 1 of 27 | ENST00000310430.11 | NP_003738.2 | |
TNKS | XM_011543845.4 | c.173C>G | p.Ser58Cys | missense_variant | Exon 1 of 28 | XP_011542147.1 | ||
TNKS | XM_011543846.4 | c.173C>G | p.Ser58Cys | missense_variant | Exon 1 of 27 | XP_011542148.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TNKS | ENST00000310430.11 | c.173C>G | p.Ser58Cys | missense_variant | Exon 1 of 27 | 1 | NM_003747.3 | ENSP00000311579.6 | ||
TNKS | ENST00000517770.2 | c.173C>G | p.Ser58Cys | missense_variant | Exon 1 of 28 | 4 | ENSP00000428185.2 | |||
TNKS | ENST00000520408.5 | c.173C>G | p.Ser58Cys | missense_variant | Exon 1 of 11 | 2 | ENSP00000428299.1 | |||
TNKS | ENST00000522110.1 | c.173C>G | p.Ser58Cys | missense_variant | Exon 1 of 1 | 6 | ENSP00000430920.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152252Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000138 AC: 2AN: 1448544Hom.: 0 Cov.: 31 AF XY: 0.00000139 AC XY: 1AN XY: 719502
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152252Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74392
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.173C>G (p.S58C) alteration is located in exon 1 (coding exon 1) of the TNKS gene. This alteration results from a C to G substitution at nucleotide position 173, causing the serine (S) at amino acid position 58 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at