rs1551510
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NR_109833.1(PRNCR1):n.1360C>G variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000132 in 151,616 control chromosomes in the GnomAD database, with no homozygous occurrence. 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_109833.1 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRNCR1 | NR_109833.1 | n.1360C>G | non_coding_transcript_exon_variant | 1/1 | |||
PCAT2 | NR_119373.1 | n.101+888G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRNCR1 | ENST00000635449.1 | n.1360C>G | non_coding_transcript_exon_variant | 1/1 | |||||
CASC19 | ENST00000642100.1 | n.418-2100G>C | intron_variant, non_coding_transcript_variant | ||||||
PCAT1 | ENST00000645463.1 | n.855+74615C>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0000132 AC: 2AN: 151616Hom.: 0 Cov.: 33
GnomAD4 exome Cov.: 0
GnomAD4 genome ? AF: 0.0000132 AC: 2AN: 151616Hom.: 0 Cov.: 33 AF XY: 0.0000270 AC XY: 2AN XY: 74024
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at