NM_012448.4:c.1569G>A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_ModerateBP6BP7BS1BS2
The NM_012448.4(STAT5B):c.1569G>A(p.Arg523Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000742 in 1,614,134 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_012448.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000348 AC: 53AN: 152196Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000322 AC: 81AN: 251430Hom.: 1 AF XY: 0.000338 AC XY: 46AN XY: 135912
GnomAD4 exome AF: 0.000783 AC: 1144AN: 1461820Hom.: 3 Cov.: 32 AF XY: 0.000736 AC XY: 535AN XY: 727212
GnomAD4 genome AF: 0.000348 AC: 53AN: 152314Hom.: 0 Cov.: 32 AF XY: 0.000309 AC XY: 23AN XY: 74470
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:1
STAT5B: BP4, BP7 -
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Growth hormone insensitivity with immune dysregulation 1, autosomal recessive Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at