2-191154646-T-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000623836.1(ENSG00000280083):n.1425A>C variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.517 in 150,350 control chromosomes in the GnomAD database, including 23,114 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
STAT4 | XM_047445600.1 | c.27-6442A>C | intron_variant | ||||
STAT4 | XM_047445601.1 | c.27-6442A>C | intron_variant | ||||
STAT4 | XM_047445602.1 | c.27-6442A>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000623836.1 | n.1425A>C | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? AF: 0.518 AC: 77763AN: 150234Hom.: 23113 Cov.: 32
GnomAD4 exome AF: 0.750 AC: 3AN: 4Hom.: 1 Cov.: 0AC XY: 0AN XY: 0
GnomAD4 genome ? AF: 0.517 AC: 77775AN: 150346Hom.: 23113 Cov.: 32 AF XY: 0.525 AC XY: 38547AN XY: 73470
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at