rs9837159
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_183712.1(PRICKLE2-DT):n.443+1737G>A 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 0.605 in 152,072 control chromosomes in the GnomAD database, including 28,294 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
Consequence
NR_183712.1 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 |
---|---|---|---|---|---|---|---|
PRICKLE2-DT | NR_183712.1 | n.443+1737G>A | intron_variant, non_coding_transcript_variant | ||||
PRICKLE2-DT | NR_183714.1 | n.345+1737G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRICKLE2-DT | ENST00000659263.1 | n.315+1737G>A | intron_variant, non_coding_transcript_variant | ||||||
PRICKLE2-DT | ENST00000487097.1 | n.469+1737G>A | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.605 AC: 91935AN: 151954Hom.: 28269 Cov.: 33
GnomAD4 genome ? AF: 0.605 AC: 92008AN: 152072Hom.: 28294 Cov.: 33 AF XY: 0.608 AC XY: 45212AN XY: 74338
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at