12-47791313-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015401.5(HDAC7):c.1934-5C>A variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000209 in 1,434,534 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_015401.5 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HDAC7 | ENST00000080059.12 | c.1934-5C>A | splice_region_variant, intron_variant | Intron 15 of 25 | 1 | NM_015401.5 | ENSP00000080059.7 | |||
HDAC7 | ENST00000380610.8 | c.1985-5C>A | splice_region_variant, intron_variant | Intron 15 of 26 | 2 | ENSP00000369984.4 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000979 AC: 2AN: 204300Hom.: 0 AF XY: 0.00000907 AC XY: 1AN XY: 110302
GnomAD4 exome AF: 0.00000209 AC: 3AN: 1434534Hom.: 0 Cov.: 31 AF XY: 0.00000422 AC XY: 3AN XY: 711192
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at