rs12556351
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_018486.3(HDAC8):c.1006-21323T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0913 in 112,433 control chromosomes in the GnomAD database, including 556 homozygotes. There are 2,977 hemizygotes in GnomAD. 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_018486.3 intron
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 |
---|---|---|---|---|---|---|---|
HDAC8 | NM_018486.3 | c.1006-21323T>C | intron_variant | ENST00000373573.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HDAC8 | ENST00000373573.9 | c.1006-21323T>C | intron_variant | 1 | NM_018486.3 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.0911 AC: 10237AN: 112382Hom.: 556 Cov.: 23 AF XY: 0.0856 AC XY: 2956AN XY: 34538
GnomAD4 genome ? AF: 0.0913 AC: 10260AN: 112433Hom.: 556 Cov.: 23 AF XY: 0.0860 AC XY: 2977AN XY: 34599
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at