chr16-30397761-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001214909.2(ZNF48):c.511C>T(p.Arg171Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000753 in 1,461,660 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R171Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_001214909.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF48 | ENST00000613509.2 | c.511C>T | p.Arg171Trp | missense_variant | Exon 3 of 3 | 2 | NM_001214909.2 | ENSP00000480262.1 | ||
ZNF48 | ENST00000320159.2 | c.511C>T | p.Arg171Trp | missense_variant | Exon 2 of 2 | 1 | ENSP00000324056.2 | |||
ZNF48 | ENST00000622647.3 | c.142C>T | p.Arg48Trp | missense_variant | Exon 2 of 2 | 4 | ENSP00000479658.1 | |||
ZNF48 | ENST00000528032.5 | c.*70C>T | downstream_gene_variant | 4 | ENSP00000435674.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000799 AC: 2AN: 250320Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135662
GnomAD4 exome AF: 0.00000753 AC: 11AN: 1461660Hom.: 0 Cov.: 82 AF XY: 0.00000825 AC XY: 6AN XY: 727128
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.511C>T (p.R171W) alteration is located in exon 3 (coding exon 2) of the ZNF48 gene. This alteration results from a C to T substitution at nucleotide position 511, causing the arginine (R) at amino acid position 171 to be replaced by a tryptophan (W). 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