19-57397169-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001172773.2(ZNF548):c.173C>T(p.Ser58Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001172773.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF548 | ENST00000336128.12 | c.173C>T | p.Ser58Leu | missense_variant | Exon 3 of 4 | 2 | NM_001172773.2 | ENSP00000337555.6 | ||
ENSG00000269533 | ENST00000596400.1 | c.51+2946C>T | intron_variant | Intron 2 of 3 | 4 | ENSP00000472277.1 | ||||
ENSG00000268133 | ENST00000597658.1 | c.152-1261C>T | intron_variant | Intron 3 of 3 | 3 | ENSP00000472894.1 | ||||
ENSG00000268533 | ENST00000597410.1 | c.39+2946C>T | intron_variant | Intron 1 of 2 | 3 | ENSP00000472152.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.173C>T (p.S58L) alteration is located in exon 3 (coding exon 3) of the ZNF548 gene. This alteration results from a C to T substitution at nucleotide position 173, causing the serine (S) at amino acid position 58 to be replaced by a leucine (L). 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.