rs57573850
- chr17-42201524-GCACACACACACACACACACACACA-G
- chr17-42201524-GCACACACACACACACACACACACA-GCA
- chr17-42201524-GCACACACACACACACACACACACA-GCACA
- chr17-42201524-GCACACACACACACACACACACACA-GCACACA
- chr17-42201524-GCACACACACACACACACACACACA-GCACACACA
- chr17-42201524-GCACACACACACACACACACACACA-GCACACACACA
- chr17-42201524-GCACACACACACACACACACACACA-GCACACACACACA
- chr17-42201524-GCACACACACACACACACACACACA-GCACACACACACACA
- chr17-42201524-GCACACACACACACACACACACACA-GCACACACACACACACA
- chr17-42201524-GCACACACACACACACACACACACA-GCACACACACACACACACA
- chr17-42201524-GCACACACACACACACACACACACA-GCACACACACACACACACACA
- chr17-42201524-GCACACACACACACACACACACACA-GCACACACACACACACACACACA
- chr17-42201524-GCACACACACACACACACACACACA-GCACACACACACACACACACACACACA
- chr17-42201524-GCACACACACACACACACACACACA-GCACACACACACACACACACACACACACA
- chr17-42201524-GCACACACACACACACACACACACA-GCACACACACACACACACACACACACACACA
- chr17-42201524-GCACACACACACACACACACACACA-GCACACACACACACACACACACACACACACACA
- chr17-42201524-GCACACACACACACACACACACACA-GCACACACACACACACACACACACACACACACACA
- chr17-42201524-GCACACACACACACACACACACACA-GCACACACACACACACACACACACACACACACACACA
- chr17-42201524-GCACACACACACACACACACACACA-GCACACACACACACACACACACACACACACACACACACA
- chr17-42201524-GCACACACACACACACACACACACA-GCACACACACACACACACACACACACACACACACACACACACA
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_012448.4(STAT5B):c.*190_*213delTGTGTGTGTGTGTGTGTGTGTGTG variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000212 in 471,576 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_012448.4 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 21
GnomAD4 exome AF: 0.00000212 AC: 1AN: 471576Hom.: 0 AF XY: 0.00000402 AC XY: 1AN XY: 248628
GnomAD4 genome Cov.: 21
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.