chr10-55343600-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000457975.2(ENSG00000236744):n.305+22492T>C variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.551 in 151,472 control chromosomes in the GnomAD database, including 23,534 homozygotes. 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
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 | UniProt |
---|---|---|---|---|---|---|---|
PCDH15 | NM_001354404.2 | c.-155-176949T>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000457975.2 | n.305+22492T>C | intron_variant, non_coding_transcript_variant | 3 | ||||||
PCDH15 | ENST00000613346.4 | c.-155-176949T>C | intron_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.551 AC: 83381AN: 151352Hom.: 23498 Cov.: 30
GnomAD4 genome AF: 0.551 AC: 83481AN: 151472Hom.: 23534 Cov.: 30 AF XY: 0.546 AC XY: 40408AN XY: 73962
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at