13-98482066-CAAAA-CAAAAAA
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BS1BS2
The NM_001032296.4(STK24):c.330+198_330+199insTT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0124 in 99,978 control chromosomes in the GnomAD database, including 17 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.012 ( 17 hom., cov: 31)
Consequence
STK24
NM_001032296.4 intron
NM_001032296.4 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.87
Genes affected
STK24 (HGNC:11403): (serine/threonine kinase 24) This gene encodes a serine/threonine protein kinase that functions upstream of mitogen-activated protein kinase (MAPK) signaling. The encoded protein is cleaved into two chains by caspases; the N-terminal fragment (MST3/N) translocates to the nucleus and promotes programmed cells death. There is a pseudogene for this gene on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -8 ACMG points.
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.0124 (1241/99978) while in subpopulation AFR AF= 0.0411 (1118/27234). AF 95% confidence interval is 0.0391. There are 17 homozygotes in gnomad4. There are 597 alleles in male gnomad4 subpopulation. Median coverage is 31. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 16 gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
STK24 | NM_001032296.4 | c.330+198_330+199insTT | intron_variant | ENST00000539966.6 | |||
STK24 | NM_001286649.2 | c.274-6709_274-6708insTT | intron_variant | ||||
STK24 | NM_003576.5 | c.366+198_366+199insTT | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
STK24 | ENST00000539966.6 | c.330+198_330+199insTT | intron_variant | 1 | NM_001032296.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0124 AC: 1235AN: 99948Hom.: 16 Cov.: 31
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GnomAD4 genome ? AF: 0.0124 AC: 1241AN: 99978Hom.: 17 Cov.: 31 AF XY: 0.0128 AC XY: 597AN XY: 46794
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ClinVar
Not reported inComputational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at