rs665153
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000662729.1(ARL14EP-DT):n.359-30928T>G 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 0.713 in 151,932 control chromosomes in the GnomAD database, including 39,543 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
ENST00000662729.1 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 |
---|---|---|---|---|---|---|---|
ARL14EP-DT | XR_007062639.1 | n.352-30928T>G | intron_variant, non_coding_transcript_variant | ||||
ARL14EP-DT | XR_931152.3 | n.531-30928T>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARL14EP-DT | ENST00000662729.1 | n.359-30928T>G | intron_variant, non_coding_transcript_variant | ||||||
ARL14EP-DT | ENST00000527819.1 | n.31+8930T>G | intron_variant, non_coding_transcript_variant | 3 | |||||
ARL14EP-DT | ENST00000669123.1 | n.95-30928T>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.713 AC: 108255AN: 151814Hom.: 39541 Cov.: 31
GnomAD4 genome ? AF: 0.713 AC: 108307AN: 151932Hom.: 39543 Cov.: 31 AF XY: 0.712 AC XY: 52844AN XY: 74260
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at