rs1555985554
Variant summary
Our verdict is Likely pathogenic. Variant got 9 ACMG points: 9P and 0B. PM1PM5PP2PP3_Strong
The NM_001347721.2(DYRK1A):c.953A>T(p.Tyr318Phe) variant causes a missense change involving the alteration of a conserved nucleotide. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Y318C) has been classified as Likely pathogenic.
Frequency
Consequence
NM_001347721.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_pathogenic. Variant got 9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DYRK1A | NM_001347721.2 | c.953A>T | p.Tyr318Phe | missense_variant | 8/12 | ENST00000647188.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DYRK1A | ENST00000647188.2 | c.953A>T | p.Tyr318Phe | missense_variant | 8/12 | NM_001347721.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 0AN: 148940Hom.: 0 Cov.: 32 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.000472 AC: 577AN: 1223666Hom.: 0 Cov.: 29 AF XY: 0.000464 AC XY: 285AN XY: 614232
GnomAD4 genome ? Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 149076Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 72872
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at