10-43609333-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_145312.4(ZNF485):c.230C>T(p.Pro77Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000409 in 1,613,722 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_145312.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF485 | NM_145312.4 | c.230C>T | p.Pro77Leu | missense_variant | Exon 4 of 5 | ENST00000361807.8 | NP_660355.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF485 | ENST00000361807.8 | c.230C>T | p.Pro77Leu | missense_variant | Exon 4 of 5 | 1 | NM_145312.4 | ENSP00000354694.3 | ||
ZNF485 | ENST00000374435.3 | c.230C>T | p.Pro77Leu | missense_variant | Exon 4 of 5 | 1 | ENSP00000363558.3 | |||
ZNF485 | ENST00000430885.5 | c.230C>T | p.Pro77Leu | missense_variant | Exon 4 of 5 | 2 | ENSP00000393570.1 |
Frequencies
GnomAD3 genomes AF: 0.0000986 AC: 15AN: 152186Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 250584Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135578
GnomAD4 exome AF: 0.0000349 AC: 51AN: 1461536Hom.: 0 Cov.: 30 AF XY: 0.0000206 AC XY: 15AN XY: 727084
GnomAD4 genome AF: 0.0000986 AC: 15AN: 152186Hom.: 0 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.230C>T (p.P77L) alteration is located in exon 4 (coding exon 3) of the ZNF485 gene. This alteration results from a C to T substitution at nucleotide position 230, causing the proline (P) at amino acid position 77 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