11-57300932-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_033396.3(TNKS1BP1):c.5081G>T(p.Gly1694Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000044 in 1,614,056 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_033396.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TNKS1BP1 | NM_033396.3 | c.5081G>T | p.Gly1694Val | missense_variant | Exon 10 of 12 | ENST00000358252.8 | NP_203754.2 | |
TNKS1BP1 | XM_006718725.4 | c.5081G>T | p.Gly1694Val | missense_variant | Exon 10 of 12 | XP_006718788.1 | ||
TNKS1BP1 | XM_047427785.1 | c.3053G>T | p.Gly1018Val | missense_variant | Exon 6 of 8 | XP_047283741.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TNKS1BP1 | ENST00000358252.8 | c.5081G>T | p.Gly1694Val | missense_variant | Exon 10 of 12 | 1 | NM_033396.3 | ENSP00000350990.3 | ||
TNKS1BP1 | ENST00000532437.1 | c.5081G>T | p.Gly1694Val | missense_variant | Exon 9 of 11 | 1 | ENSP00000437271.1 | |||
TNKS1BP1 | ENST00000528882.5 | n.*3103-971G>T | intron_variant | Intron 6 of 6 | 5 | ENSP00000431616.1 | ||||
TNKS1BP1 | ENST00000427750.2 | n.1419G>T | non_coding_transcript_exon_variant | Exon 4 of 6 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152186Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000107 AC: 27AN: 251448Hom.: 1 AF XY: 0.000147 AC XY: 20AN XY: 135894
GnomAD4 exome AF: 0.0000479 AC: 70AN: 1461870Hom.: 1 Cov.: 31 AF XY: 0.0000798 AC XY: 58AN XY: 727242
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152186Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.5081G>T (p.G1694V) alteration is located in exon 10 (coding exon 9) of the TNKS1BP1 gene. This alteration results from a G to T substitution at nucleotide position 5081, causing the glycine (G) at amino acid position 1694 to be replaced by a valine (V). 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