8-23726713-G-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000520375.1(ENSG00000254002):n.163-102C>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 0.245 in 152,210 control chromosomes in the GnomAD database, including 4,830 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 |
---|---|---|---|---|---|---|---|
LOC101929258 | XR_001745839.2 | n.94-102C>A | intron_variant, non_coding_transcript_variant | ||||
LOC107986930 | XR_001745842.2 | n.1312+57963G>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000520375.1 | n.163-102C>A | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000523874.1 | n.75+19498G>T | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.245 AC: 37215AN: 152000Hom.: 4824 Cov.: 32
GnomAD4 exome AF: 0.207 AC: 19AN: 92Hom.: 2 AF XY: 0.197 AC XY: 13AN XY: 66
GnomAD4 genome AF: 0.245 AC: 37254AN: 152118Hom.: 4828 Cov.: 32 AF XY: 0.242 AC XY: 18007AN XY: 74364
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at