11-57302155-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_033396.3(TNKS1BP1):c.4753G>C(p.Ala1585Pro) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic 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 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TNKS1BP1 | NM_033396.3 | c.4753G>C | p.Ala1585Pro | missense_variant | Exon 8 of 12 | ENST00000358252.8 | NP_203754.2 | |
TNKS1BP1 | XM_006718725.4 | c.4753G>C | p.Ala1585Pro | missense_variant | Exon 8 of 12 | XP_006718788.1 | ||
TNKS1BP1 | XM_047427785.1 | c.2725G>C | p.Ala909Pro | 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.4753G>C | p.Ala1585Pro | missense_variant | Exon 8 of 12 | 1 | NM_033396.3 | ENSP00000350990.3 | ||
TNKS1BP1 | ENST00000532437.1 | c.4753G>C | p.Ala1585Pro | missense_variant | Exon 7 of 11 | 1 | ENSP00000437271.1 | |||
TNKS1BP1 | ENST00000528882.5 | n.*3103-2194G>C | intron_variant | Intron 6 of 6 | 5 | ENSP00000431616.1 | ||||
TNKS1BP1 | ENST00000427750.2 | n.1091G>C | non_coding_transcript_exon_variant | Exon 2 of 6 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.4753G>C (p.A1585P) alteration is located in exon 8 (coding exon 7) of the TNKS1BP1 gene. This alteration results from a G to C substitution at nucleotide position 4753, causing the alanine (A) at amino acid position 1585 to be replaced by a proline (P). 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
Publications
No publications associated with this variant yet.