chr17-42201524-G-GCA
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Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1
The NM_012448.4(STAT5B):c.*212_*213dupTG variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.075 in 610,972 control chromosomes in the GnomAD database, including 435 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.075 ( 419 hom., cov: 21)
Exomes 𝑓: 0.075 ( 16 hom. )
Consequence
STAT5B
NM_012448.4 3_prime_UTR
NM_012448.4 3_prime_UTR
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.111
Genes affected
STAT5B (HGNC:11367): (signal transducer and activator of transcription 5B) The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -8 ACMG points.
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0817 is higher than 0.05.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0745 AC: 10846AN: 145634Hom.: 419 Cov.: 21
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GnomAD4 exome AF: 0.0752 AC: 34975AN: 465246Hom.: 16 Cov.: 0 AF XY: 0.0742 AC XY: 18193AN XY: 245192
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GnomAD4 genome AF: 0.0745 AC: 10859AN: 145726Hom.: 419 Cov.: 21 AF XY: 0.0752 AC XY: 5321AN XY: 70784
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at