rs3795617
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000644134.1(ENSG00000285280):n.409-40903G>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 0.438 in 151,790 control chromosomes in the GnomAD database, including 14,820 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 |
---|---|---|---|---|---|---|---|
LOC107985241 | XR_001738348.2 | downstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000644134.1 | n.409-40903G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000702390.1 | downstream_gene_variant |
Frequencies
GnomAD3 genomes ? AF: 0.438 AC: 66458AN: 151672Hom.: 14807 Cov.: 32
GnomAD4 genome ? AF: 0.438 AC: 66509AN: 151790Hom.: 14820 Cov.: 32 AF XY: 0.438 AC XY: 32494AN XY: 74172
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at