rs3884558
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000559783.2(ENSG00000259616):n.187-10149T>C 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 0.837 in 152,220 control chromosomes in the GnomAD database, including 54,504 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 |
---|---|---|---|---|---|---|---|
LOC105370847 | XR_932332.2 | n.251-136A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105370847 | XR_932333.2 | n.251-136A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000559783.2 | n.187-10149T>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.837 AC: 127381AN: 152102Hom.: 54468 Cov.: 34
GnomAD4 genome ? AF: 0.837 AC: 127461AN: 152220Hom.: 54504 Cov.: 34 AF XY: 0.827 AC XY: 61569AN XY: 74406
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at