rs6485438
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000526615.6(ENSG00000283217):n.287-7923G>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 0.315 in 151,982 control chromosomes in the GnomAD database, including 7,768 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 |
---|---|---|---|---|---|---|---|
HSD17B12 | XM_024448571.2 | c.-63+24034G>A | intron_variant | ||||
HSD17B12 | XM_024448572.2 | c.-63+24034G>A | intron_variant | ||||
HSD17B12 | XM_024448573.2 | c.-63+24034G>A | intron_variant | ||||
HSD17B12 | XM_047427074.1 | c.-63+24034G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000526615.6 | n.287-7923G>A | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000533358.2 | n.223-7923G>A | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.315 AC: 47894AN: 151864Hom.: 7761 Cov.: 32
GnomAD4 genome AF: 0.315 AC: 47914AN: 151982Hom.: 7768 Cov.: 32 AF XY: 0.313 AC XY: 23225AN XY: 74294
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at