rs12582659
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000552856.1(ENSG00000258077):n.401+21357A>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 0.0543 in 152,336 control chromosomes in the GnomAD database, including 512 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 |
---|---|---|---|---|---|---|---|
LOC105369844 | XR_007063375.1 | n.1372-6942A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105369844 | XR_007063374.1 | n.691+21357A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105369844 | XR_007063376.1 | n.2299-6942A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105369844 | XR_007063377.1 | n.2299-6942A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000552856.1 | n.401+21357A>G | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000651075.1 | n.262-88T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0542 AC: 8256AN: 152218Hom.: 507 Cov.: 33
GnomAD4 genome AF: 0.0543 AC: 8276AN: 152336Hom.: 512 Cov.: 33 AF XY: 0.0590 AC XY: 4392AN XY: 74500
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at