chr12-4610245-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001394779.1(DYRK4):c.1451A>G(p.Tyr484Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000533 in 1,594,034 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001394779.1 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 |
---|---|---|---|---|---|---|---|
DYRK4 | NM_001394779.1 | c.1451A>G | p.Tyr484Cys | missense_variant | 13/15 | ENST00000543431.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DYRK4 | ENST00000543431.6 | c.1451A>G | p.Tyr484Cys | missense_variant | 13/15 | 5 | NM_001394779.1 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.000131 AC: 20AN: 152234Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000645 AC: 15AN: 232450Hom.: 0 AF XY: 0.0000556 AC XY: 7AN XY: 125794
GnomAD4 exome AF: 0.0000451 AC: 65AN: 1441682Hom.: 0 Cov.: 30 AF XY: 0.0000502 AC XY: 36AN XY: 716752
GnomAD4 genome ? AF: 0.000131 AC: 20AN: 152352Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74508
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 09, 2021 | The c.1106A>G (p.Y369C) alteration is located in exon 11 (coding exon 9) of the DYRK4 gene. This alteration results from a A to G substitution at nucleotide position 1106, causing the tyrosine (Y) at amino acid position 369 to be replaced by a cysteine (C). 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