chr12-4596254-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001394779.1(DYRK4):c.733G>C(p.Val245Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000781 in 1,614,064 control chromosomes in the GnomAD database, including 1 homozygotes. 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. V245G) has been classified 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.733G>C | p.Val245Leu | missense_variant | 7/15 | ENST00000543431.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DYRK4 | ENST00000543431.6 | c.733G>C | p.Val245Leu | missense_variant | 7/15 | 5 | NM_001394779.1 | P2 | |
DYRK4 | ENST00000540757.6 | c.388G>C | p.Val130Leu | missense_variant | 5/13 | 1 | A2 | ||
DYRK4 | ENST00000536157.5 | n.743G>C | non_coding_transcript_exon_variant | 5/6 | 1 | ||||
DYRK4 | ENST00000010132.6 | c.388G>C | p.Val130Leu | missense_variant | 4/12 | 5 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.000407 AC: 62AN: 152184Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000716 AC: 18AN: 251376Hom.: 0 AF XY: 0.0000294 AC XY: 4AN XY: 135850
GnomAD4 exome AF: 0.0000438 AC: 64AN: 1461880Hom.: 1 Cov.: 32 AF XY: 0.0000426 AC XY: 31AN XY: 727238
GnomAD4 genome ? AF: 0.000407 AC: 62AN: 152184Hom.: 0 Cov.: 32 AF XY: 0.000350 AC XY: 26AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 06, 2021 | The c.388G>C (p.V130L) alteration is located in exon 5 (coding exon 3) of the DYRK4 gene. This alteration results from a G to C substitution at nucleotide position 388, causing the valine (V) at amino acid position 130 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