rs1545843
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000642846.1(ENSG00000257729):n.34+15822G>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 0.519 in 151,840 control chromosomes in the GnomAD database, including 21,256 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 |
---|---|---|---|---|---|---|---|
LOC107984536 | XR_001749235.2 | n.111+16177C>T | intron_variant, non_coding_transcript_variant | ||||
LOC107984536 | XR_001749234.2 | n.111+16177C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000642846.1 | n.34+15822G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000689302.1 | n.111+16177C>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000688936.2 | n.111+16177C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.519 AC: 78759AN: 151722Hom.: 21237 Cov.: 32
GnomAD4 genome ? AF: 0.519 AC: 78818AN: 151840Hom.: 21256 Cov.: 32 AF XY: 0.514 AC XY: 38166AN XY: 74214
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at