NM_001300783.2:c.159+54381C>T
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001300783.2(PRR16):c.159+54381C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000132 in 151,642 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
NM_001300783.2 intron
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PRR16 | ENST00000407149.7 | c.159+54381C>T | intron_variant | Intron 1 of 1 | 1 | NM_001300783.2 | ENSP00000385118.2 | |||
PRR16 | ENST00000379551.2 | c.90+37733C>T | intron_variant | Intron 2 of 2 | 1 | ENSP00000368869.2 | ||||
PRR16 | ENST00000509923.1 | c.-52+53315C>T | intron_variant | Intron 1 of 1 | 3 | ENSP00000421256.1 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151642Hom.: 0 Cov.: 31 show subpopulations
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151642Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74032 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at