X-41714313-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001367721.1(CASK):c.429+25071A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.487 in 110,170 control chromosomes in the GnomAD database, including 9,630 homozygotes. There are 15,669 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001367721.1 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CASK | NM_001367721.1 | c.429+25071A>G | intron_variant | ENST00000378163.7 | NP_001354650.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CASK | ENST00000378163.7 | c.429+25071A>G | intron_variant | 5 | NM_001367721.1 | ENSP00000367405.1 |
Frequencies
GnomAD3 genomes AF: 0.487 AC: 53668AN: 110117Hom.: 9625 Cov.: 22 AF XY: 0.482 AC XY: 15635AN XY: 32413
GnomAD4 genome AF: 0.487 AC: 53704AN: 110170Hom.: 9630 Cov.: 22 AF XY: 0.482 AC XY: 15669AN XY: 32476
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at