rs6985140
Positions:
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003747.3(TNKS):c.995-34A>C variant causes a intron change. The variant allele was found at a frequency of 0.00000209 in 1,436,632 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: not found (cov: 32)
Exomes 𝑓: 0.0000021 ( 0 hom. )
Consequence
TNKS
NM_003747.3 intron
NM_003747.3 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 3.64
Genes affected
TNKS (HGNC:11941): (tankyrase) Enables histone binding activity; pentosyltransferase activity; and zinc ion binding activity. Involved in several processes, including negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric; protein ADP-ribosylation; and regulation of nucleobase-containing compound metabolic process. Acts upstream of or within peptidyl-serine phosphorylation; peptidyl-threonine phosphorylation; and protein ADP-ribosylation. Located in several cellular components, including chromosome, telomeric region; mitotic spindle pole; and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
PM2
?
Very rare variant in population databases, with high coverage;
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.38).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TNKS | NM_003747.3 | c.995-34A>C | intron_variant | ENST00000310430.11 | |||
TNKS | XM_011543845.4 | c.995-34A>C | intron_variant | ||||
TNKS | XM_011543846.4 | c.995-34A>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TNKS | ENST00000310430.11 | c.995-34A>C | intron_variant | 1 | NM_003747.3 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 genomes
?
Cov.:
32
GnomAD3 exomes AF: 0.00000801 AC: 2AN: 249628Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135052
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GnomAD4 exome AF: 0.00000209 AC: 3AN: 1436632Hom.: 0 Cov.: 26 AF XY: 0.00000419 AC XY: 3AN XY: 716208
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GnomAD4 genome ? Cov.: 32
GnomAD4 genome
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32
ClinVar
Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
RBP_binding_hub_radar
RBP_regulation_power_radar
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at