rs2732547
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000687081.1(ENSG00000289526):n.57A>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 0.53 in 152,046 control chromosomes in the GnomAD database, including 22,004 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
ENST00000687081.1 non_coding_transcript_exon
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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LOC105376626 | XR_001748180.2 | n.56A>G | non_coding_transcript_exon_variant | 1/4 | ||||
LOC105376626 | XR_007062653.1 | n.56A>G | non_coding_transcript_exon_variant | 1/5 | ||||
LOC105376626 | XR_007062654.1 | n.56A>G | non_coding_transcript_exon_variant | 1/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000289526 | ENST00000687081.1 | n.57A>G | non_coding_transcript_exon_variant | 1/2 |
Frequencies
GnomAD3 genomes AF: 0.530 AC: 80553AN: 151928Hom.: 21998 Cov.: 32
GnomAD4 genome AF: 0.530 AC: 80576AN: 152046Hom.: 22004 Cov.: 32 AF XY: 0.535 AC XY: 39719AN XY: 74308
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at