chr11-57302166-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_033396.3(TNKS1BP1):c.4742G>A(p.Arg1581His) variant causes a missense change. The variant allele was found at a frequency of 0.00000434 in 1,613,384 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TNKS1BP1 | NM_033396.3 | c.4742G>A | p.Arg1581His | missense_variant | Exon 8 of 12 | ENST00000358252.8 | NP_203754.2 | |
TNKS1BP1 | XM_006718725.4 | c.4742G>A | p.Arg1581His | missense_variant | Exon 8 of 12 | XP_006718788.1 | ||
TNKS1BP1 | XM_047427785.1 | c.2714G>A | p.Arg905His | missense_variant | Exon 4 of 8 | XP_047283741.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TNKS1BP1 | ENST00000358252.8 | c.4742G>A | p.Arg1581His | missense_variant | Exon 8 of 12 | 1 | NM_033396.3 | ENSP00000350990.3 | ||
TNKS1BP1 | ENST00000532437.1 | c.4742G>A | p.Arg1581His | missense_variant | Exon 7 of 11 | 1 | ENSP00000437271.1 | |||
TNKS1BP1 | ENST00000528882.5 | n.*3103-2205G>A | intron_variant | Intron 6 of 6 | 5 | ENSP00000431616.1 | ||||
TNKS1BP1 | ENST00000427750.2 | n.1080G>A | non_coding_transcript_exon_variant | Exon 2 of 6 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152146Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250738Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135610
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1461238Hom.: 0 Cov.: 32 AF XY: 0.00000550 AC XY: 4AN XY: 726940
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152146Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.4742G>A (p.R1581H) alteration is located in exon 8 (coding exon 7) of the TNKS1BP1 gene. This alteration results from a G to A substitution at nucleotide position 4742, causing the arginine (R) at amino acid position 1581 to be replaced by a histidine (H). 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