X-129814685-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_ModerateBP6_ModerateBS2
The NM_016032.4(ZDHHC9):c.598G>A(p.Ala200Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000108 in 1,209,050 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 3 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_016032.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZDHHC9 | NM_016032.4 | c.598G>A | p.Ala200Thr | missense_variant | 6/11 | ENST00000357166.11 | |
ZDHHC9 | NM_001008222.3 | c.598G>A | p.Ala200Thr | missense_variant | 5/10 | ||
ZDHHC9 | XM_047442151.1 | c.598G>A | p.Ala200Thr | missense_variant | 6/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZDHHC9 | ENST00000357166.11 | c.598G>A | p.Ala200Thr | missense_variant | 6/11 | 1 | NM_016032.4 | P1 | |
ZDHHC9 | ENST00000371064.7 | c.598G>A | p.Ala200Thr | missense_variant | 5/10 | 1 | P1 | ||
ZDHHC9 | ENST00000433917.5 | c.367-960G>A | intron_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000180 AC: 2AN: 111188Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33386
GnomAD3 exomes AF: 0.0000327 AC: 6AN: 183415Hom.: 0 AF XY: 0.0000295 AC XY: 2AN XY: 67887
GnomAD4 exome AF: 0.0000100 AC: 11AN: 1097862Hom.: 0 Cov.: 31 AF XY: 0.00000826 AC XY: 3AN XY: 363236
GnomAD4 genome ? AF: 0.0000180 AC: 2AN: 111188Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33386
ClinVar
Submissions by phenotype
Syndromic X-linked intellectual disability Raymond type Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Apr 14, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at