rs12032672
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000645056.1(PKN2-AS1):n.471-125054T>G 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 0.37 in 151,704 control chromosomes in the GnomAD database, including 10,681 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
ENST00000645056.1 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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PKN2-AS1 | ENST00000645056.1 | n.471-125054T>G | intron_variant, non_coding_transcript_variant | ||||||
PKN2-AS1 | ENST00000642677.1 | n.202+68143T>G | intron_variant, non_coding_transcript_variant | ||||||
PKN2-AS1 | ENST00000643530.1 | n.169-125054T>G | intron_variant, non_coding_transcript_variant | ||||||
PKN2-AS1 | ENST00000644540.1 | n.24+109199T>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.370 AC: 56136AN: 151586Hom.: 10676 Cov.: 31
GnomAD4 genome AF: 0.370 AC: 56168AN: 151704Hom.: 10681 Cov.: 31 AF XY: 0.372 AC XY: 27583AN XY: 74104
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at