chr21-37486604-A-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_Very_StrongBP7BS2_Supporting
The NM_001347721.2(DYRK1A):āc.627A>Gā(p.Lys209Lys) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000309 in 1,586,656 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Consequence
NM_001347721.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000184 AC: 28AN: 152246Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000482 AC: 11AN: 228034Hom.: 0 AF XY: 0.0000564 AC XY: 7AN XY: 124022
GnomAD4 exome AF: 0.0000146 AC: 21AN: 1434410Hom.: 0 Cov.: 30 AF XY: 0.0000182 AC XY: 13AN XY: 713432
GnomAD4 genome AF: 0.000184 AC: 28AN: 152246Hom.: 0 Cov.: 32 AF XY: 0.000255 AC XY: 19AN XY: 74378
ClinVar
Submissions by phenotype
DYRK1A-related intellectual disability syndrome Benign:1
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Inborn genetic diseases Benign:1
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at