rs171288
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000670789.1(PELO-AS1):n.210+35265T>C 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 0.149 in 152,032 control chromosomes in the GnomAD database, including 1,786 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
ENST00000670789.1 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 |
---|---|---|---|---|---|---|---|
PELO-AS1 | XR_001742662.2 | n.155+1183T>C | intron_variant, non_coding_transcript_variant | ||||
PELO-AS1 | XR_001742661.2 | n.158+1183T>C | intron_variant, non_coding_transcript_variant | ||||
PELO-AS1 | XR_948321.3 | n.209+1183T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PELO-AS1 | ENST00000670789.1 | n.210+35265T>C | intron_variant, non_coding_transcript_variant | ||||||
PELO-AS1 | ENST00000502995.1 | n.167+35265T>C | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.149 AC: 22596AN: 151914Hom.: 1789 Cov.: 32
GnomAD4 genome ? AF: 0.149 AC: 22588AN: 152032Hom.: 1786 Cov.: 32 AF XY: 0.148 AC XY: 11022AN XY: 74290
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at