rs2301252
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000613208.1(ENSG00000273677):n.71C>A 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 0.484 in 152,242 control chromosomes in the GnomAD database, including 19,683 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
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 |
---|---|---|---|---|---|---|---|
WT1-AS | NR_120548.1 | n.329+535C>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000613208.1 | n.71C>A | non_coding_transcript_exon_variant | 1/1 | ||||||
WT1-AS | ENST00000690579.1 | n.225+535C>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.484 AC: 73485AN: 151886Hom.: 19603 Cov.: 33
GnomAD4 exome AF: 0.517 AC: 123AN: 238Hom.: 31 Cov.: 0 AF XY: 0.512 AC XY: 85AN XY: 166
GnomAD4 genome ? AF: 0.484 AC: 73587AN: 152004Hom.: 19652 Cov.: 33 AF XY: 0.488 AC XY: 36261AN XY: 74290
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at