21-43417080-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_173354.5(SIK1):c.2014G>A(p.Gly672Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. 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 Benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G672R) has been classified as Uncertain significance.
Frequency
Consequence
NM_173354.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 9366Hom.: 0 Cov.: 0 FAILED QC
GnomAD3 exomes AF: 0.0000123 AC: 1AN: 81624Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 45758
GnomAD4 exome Cov.: 0
GnomAD4 genome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 9380Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 4338
ClinVar
Submissions by phenotype
Developmental and epileptic encephalopathy, 30 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at