rs17367118
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000657880.1(ENSG00000286481):n.1125-907G>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 0.15 in 152,054 control chromosomes in the GnomAD database, including 2,226 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 |
---|---|---|---|---|---|---|---|
LOC105373595 | XR_923292.3 | n.1308-907G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000657880.1 | n.1125-907G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000655733.1 | n.2979-907G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000687364.1 | n.435-907G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.150 AC: 22773AN: 151936Hom.: 2226 Cov.: 32
GnomAD4 genome AF: 0.150 AC: 22776AN: 152054Hom.: 2226 Cov.: 32 AF XY: 0.146 AC XY: 10859AN XY: 74322
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at