10-23080492-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000655462.1(ENSG00000286924):n.116+53197G>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 0.452 in 151,852 control chromosomes in the GnomAD database, including 15,832 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 |
---|---|---|---|---|---|---|---|
LOC107984215 | XR_001747394.2 | n.461-10924G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000655462.1 | n.116+53197G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000655837.1 | n.279-10924G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000662527.1 | n.371-10924G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.452 AC: 68528AN: 151732Hom.: 15797 Cov.: 32
GnomAD4 genome AF: 0.452 AC: 68622AN: 151852Hom.: 15832 Cov.: 32 AF XY: 0.454 AC XY: 33709AN XY: 74182
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at