rs200200711
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 3P and 7B. PM2PP2BP4_ModerateBP6BS1
The NM_012448.4(STAT5B):c.1529C>T(p.Ala510Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000126 in 1,614,020 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. A510A) has been classified as Likely benign.
Frequency
Consequence
NM_012448.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
STAT5B | NM_012448.4 | c.1529C>T | p.Ala510Val | missense_variant | 13/19 | ENST00000293328.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
STAT5B | ENST00000293328.8 | c.1529C>T | p.Ala510Val | missense_variant | 13/19 | 1 | NM_012448.4 | P4 |
Frequencies
GnomAD3 genomes AF: 0.000210 AC: 32AN: 152162Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000163 AC: 41AN: 251480Hom.: 0 AF XY: 0.000162 AC XY: 22AN XY: 135918
GnomAD4 exome AF: 0.000118 AC: 172AN: 1461858Hom.: 1 Cov.: 32 AF XY: 0.000117 AC XY: 85AN XY: 727234
GnomAD4 genome AF: 0.000210 AC: 32AN: 152162Hom.: 0 Cov.: 32 AF XY: 0.000215 AC XY: 16AN XY: 74330
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 06, 2021 | The c.1529C>T (p.A510V) alteration is located in exon 13 (coding exon 12) of the STAT5B gene. This alteration results from a C to T substitution at nucleotide position 1529, causing the alanine (A) at amino acid position 510 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Sep 10, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at