rs2289863
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4_StrongBP7
The NM_015897.4(PIAS4):c.738C>G(p.Thr246=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000496 in 1,613,128 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
Consequence
NM_015897.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PIAS4 | NM_015897.4 | c.738C>G | p.Thr246= | synonymous_variant | 6/11 | ENST00000262971.3 | |
PIAS4 | XM_011528060.3 | c.795C>G | p.Thr265= | synonymous_variant | 6/11 | ||
PIAS4 | XM_017026868.2 | c.165C>G | p.Thr55= | synonymous_variant | 3/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PIAS4 | ENST00000262971.3 | c.738C>G | p.Thr246= | synonymous_variant | 6/11 | 1 | NM_015897.4 | P1 | |
PIAS4 | ENST00000596144.1 | n.586C>G | non_coding_transcript_exon_variant | 5/5 | 3 | ||||
PIAS4 | ENST00000601439.1 | n.206C>G | non_coding_transcript_exon_variant | 2/2 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.00000659 AC: 1AN: 151810Hom.: 0 Cov.: 30
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461318Hom.: 0 Cov.: 56 AF XY: 0.00000413 AC XY: 3AN XY: 726968
GnomAD4 genome ? AF: 0.00000659 AC: 1AN: 151810Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 74130
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at