rs4836643
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000674627.1(IER5L-AS1):n.813-11017G>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 0.417 in 152,040 control chromosomes in the GnomAD database, including 15,321 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
Consequence
ENST00000674627.1 intron, non_coding_transcript
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 |
---|---|---|---|---|---|---|---|
LOC105376289 | XR_007061813.1 | n.1415-11017G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IER5L-AS1 | ENST00000674627.1 | n.813-11017G>A | intron_variant, non_coding_transcript_variant | ||||||
IER5L-AS1 | ENST00000372490.4 | n.368-11017G>A | intron_variant, non_coding_transcript_variant | 2 | |||||
IER5L-AS1 | ENST00000675308.1 | n.813-11017G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.417 AC: 63328AN: 151922Hom.: 15318 Cov.: 31
GnomAD4 genome ? AF: 0.417 AC: 63332AN: 152040Hom.: 15321 Cov.: 31 AF XY: 0.417 AC XY: 31002AN XY: 74300
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at