17-7383857-T-C
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_003985.6(TNK1):āc.575T>Cā(p.Leu192Pro) variant causes a missense change. The variant allele was found at a frequency of 0.000000686 in 1,456,686 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_003985.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TNK1 | ENST00000688331.1 | c.575T>C | p.Leu192Pro | missense_variant | Exon 5 of 13 | NM_003985.6 | ENSP00000509611.1 | |||
TNK1 | ENST00000576812.5 | c.575T>C | p.Leu192Pro | missense_variant | Exon 5 of 13 | 1 | ENSP00000459799.1 | |||
TNK1 | ENST00000570896.5 | c.575T>C | p.Leu192Pro | missense_variant | Exon 6 of 14 | 5 | ENSP00000458834.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1456686Hom.: 0 Cov.: 34 AF XY: 0.00000138 AC XY: 1AN XY: 724148
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.575T>C (p.L192P) alteration is located in exon 5 (coding exon 4) of the TNK1 gene. This alteration results from a T to C substitution at nucleotide position 575, causing the leucine (L) at amino acid position 192 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.