17-44078546-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_005474.5(HDAC5):c.3283G>A(p.Gly1095Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000155 in 1,612,182 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G1095E) has been classified as Uncertain significance.
Frequency
Consequence
NM_005474.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152184Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000282 AC: 7AN: 248056Hom.: 0 AF XY: 0.00000744 AC XY: 1AN XY: 134456
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1459998Hom.: 0 Cov.: 32 AF XY: 0.00000688 AC XY: 5AN XY: 726414
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152184Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74342
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3286G>A (p.G1096R) alteration is located in exon 26 (coding exon 25) of the HDAC5 gene. This alteration results from a G to A substitution at nucleotide position 3286, causing the glycine (G) at amino acid position 1096 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at