rs3024952
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_003153.5(STAT6):āc.542T>Gā(p.Met181Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000657 in 1,614,230 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. M181V) has been classified as Uncertain significance.
Frequency
Consequence
NM_003153.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
STAT6 | NM_003153.5 | c.542T>G | p.Met181Arg | missense_variant | 7/22 | ENST00000300134.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
STAT6 | ENST00000300134.8 | c.542T>G | p.Met181Arg | missense_variant | 7/22 | 1 | NM_003153.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152236Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000159 AC: 40AN: 251364Hom.: 0 AF XY: 0.000147 AC XY: 20AN XY: 135846
GnomAD4 exome AF: 0.0000650 AC: 95AN: 1461876Hom.: 0 Cov.: 31 AF XY: 0.0000619 AC XY: 45AN XY: 727242
GnomAD4 genome AF: 0.0000722 AC: 11AN: 152354Hom.: 0 Cov.: 32 AF XY: 0.0000940 AC XY: 7AN XY: 74506
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at