rs7891653
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_073010.2(PTCHD1-AS):n.512-47751C>T 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 0.0396 in 111,475 control chromosomes in the GnomAD database, including 143 homozygotes. There are 1,308 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
NR_073010.2 intron, non_coding_transcript
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-AS | NR_073010.2 | n.512-47751C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000687248.1 | n.512-47751C>T | intron_variant, non_coding_transcript_variant | |||||||
PHEX | ENST00000683289.1 | c.625-47770G>A | intron_variant, NMD_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0396 AC: 4417AN: 111422Hom.: 143 Cov.: 22 AF XY: 0.0388 AC XY: 1304AN XY: 33644
GnomAD4 genome ? AF: 0.0396 AC: 4418AN: 111475Hom.: 143 Cov.: 22 AF XY: 0.0388 AC XY: 1308AN XY: 33707
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at