rs453810
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_032968.5(PCDH11X):c.3115-22050T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.583 in 109,884 control chromosomes in the GnomAD database, including 15,525 homozygotes. There are 18,179 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_032968.5 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PCDH11X | NM_032968.5 | c.3115-22050T>G | intron_variant | ENST00000682573.1 | NP_116750.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PCDH11X | ENST00000682573.1 | c.3115-22050T>G | intron_variant | NM_032968.5 | ENSP00000507225 | P4 |
Frequencies
GnomAD3 genomes AF: 0.583 AC: 64064AN: 109837Hom.: 15535 Cov.: 22 AF XY: 0.565 AC XY: 18157AN XY: 32137
GnomAD4 genome AF: 0.583 AC: 64067AN: 109884Hom.: 15525 Cov.: 22 AF XY: 0.565 AC XY: 18179AN XY: 32194
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at