chr8-9556169-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003747.3(TNKS):c.230G>A(p.Arg77Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,459,600 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar 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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TNKS | NM_003747.3 | c.230G>A | p.Arg77Lys | missense_variant | 1/27 | ENST00000310430.11 | NP_003738.2 | |
TNKS | XM_011543845.4 | c.230G>A | p.Arg77Lys | missense_variant | 1/28 | XP_011542147.1 | ||
TNKS | XM_011543846.4 | c.230G>A | p.Arg77Lys | missense_variant | 1/27 | XP_011542148.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TNKS | ENST00000310430.11 | c.230G>A | p.Arg77Lys | missense_variant | 1/27 | 1 | NM_003747.3 | ENSP00000311579 | P1 | |
TNKS | ENST00000517770.2 | c.230G>A | p.Arg77Lys | missense_variant | 1/28 | 4 | ENSP00000428185 | |||
TNKS | ENST00000520408.5 | c.230G>A | p.Arg77Lys | missense_variant | 1/11 | 2 | ENSP00000428299 | |||
TNKS | ENST00000522110.1 | c.230G>A | p.Arg77Lys | missense_variant | 1/1 | ENSP00000430920 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000805 AC: 2AN: 248478Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 134596
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1459600Hom.: 0 Cov.: 31 AF XY: 0.00000276 AC XY: 2AN XY: 725802
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 13, 2021 | The c.230G>A (p.R77K) alteration is located in exon 1 (coding exon 1) of the TNKS gene. This alteration results from a G to A substitution at nucleotide position 230, causing the arginine (R) at amino acid position 77 to be replaced by a lysine (K). 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