chr7-18666379-T-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_178425.4(HDAC9):c.1634T>G(p.Val545Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000342 in 1,461,072 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_178425.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HDAC9 | NM_178425.4 | c.1634T>G | p.Val545Gly | missense_variant | 12/26 | ENST00000686413.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HDAC9 | ENST00000686413.1 | c.1634T>G | p.Val545Gly | missense_variant | 12/26 | NM_178425.4 | P4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.0000161 AC: 4AN: 247906Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 134496
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461072Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726814
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 30, 2021 | The c.1634T>G (p.V545G) alteration is located in exon 11 (coding exon 11) of the HDAC9 gene. This alteration results from a T to G substitution at nucleotide position 1634, causing the valine (V) at amino acid position 545 to be replaced by a glycine (G). 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