rs5925760
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_173495.3(PTCHD1):c.352-14264G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.135 in 111,144 control chromosomes in the GnomAD database, including 967 homozygotes. There are 4,589 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_173495.3 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 | UniProt |
---|---|---|---|---|---|---|---|
PTCHD1 | NM_173495.3 | c.352-14264G>A | intron_variant | ENST00000379361.5 | |||
PTCHD1 | XM_011545449.4 | c.352-14264G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PTCHD1 | ENST00000379361.5 | c.352-14264G>A | intron_variant | 1 | NM_173495.3 | P1 | |||
PTCHD1 | ENST00000456522.1 | c.159-27204G>A | intron_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.135 AC: 14964AN: 111090Hom.: 966 Cov.: 22 AF XY: 0.138 AC XY: 4585AN XY: 33268
GnomAD4 genome ? AF: 0.135 AC: 14964AN: 111144Hom.: 967 Cov.: 22 AF XY: 0.138 AC XY: 4589AN XY: 33332
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at