rs1713511
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000655512.1(ENSG00000286891):n.117-3175G>A 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 0.274 in 150,008 control chromosomes in the GnomAD database, including 5,764 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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000655512.1 | n.117-3175G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000665455.1 | n.286+11578G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000667550.1 | n.310-3175G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000669927.1 | n.282-3175G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.274 AC: 41079AN: 149892Hom.: 5757 Cov.: 28
GnomAD4 genome ? AF: 0.274 AC: 41096AN: 150008Hom.: 5764 Cov.: 28 AF XY: 0.269 AC XY: 19685AN XY: 73094
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at