chr18-14105195-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_145287.4(ZNF519):c.1345C>G(p.Arg449Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000375 in 1,571,504 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_145287.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF519 | NM_145287.4 | c.1345C>G | p.Arg449Gly | missense_variant | 3/3 | ENST00000590202.3 | |
ZNF519 | NR_033354.2 | n.162-20119C>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF519 | ENST00000590202.3 | c.1345C>G | p.Arg449Gly | missense_variant | 3/3 | 1 | NM_145287.4 | P1 | |
ENST00000592926.1 | n.486G>C | non_coding_transcript_exon_variant | 2/2 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000537 AC: 8AN: 148876Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000439 AC: 11AN: 250474Hom.: 0 AF XY: 0.0000369 AC XY: 5AN XY: 135418
GnomAD4 exome AF: 0.0000358 AC: 51AN: 1422628Hom.: 0 Cov.: 34 AF XY: 0.0000339 AC XY: 24AN XY: 708152
GnomAD4 genome ? AF: 0.0000537 AC: 8AN: 148876Hom.: 0 Cov.: 33 AF XY: 0.0000549 AC XY: 4AN XY: 72838
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 06, 2021 | The c.1345C>G (p.R449G) alteration is located in exon 3 (coding exon 3) of the ZNF519 gene. This alteration results from a C to G substitution at nucleotide position 1345, causing the arginine (R) at amino acid position 449 to be replaced by a glycine (G). 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