11-130774854-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000702122.1(ENSG00000288013):n.456-1751C>T 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 0.198 in 152,078 control chromosomes in the GnomAD database, including 5,863 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 |
---|---|---|---|---|---|---|---|
LOC105369576 | XR_948197.4 | n.445-1751C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105369576 | XR_001748458.2 | n.4413-1751C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105369576 | XR_007062955.1 | n.7858-1751C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000702122.1 | n.456-1751C>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000653403.1 | n.394-1751C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.198 AC: 30065AN: 151960Hom.: 5835 Cov.: 32
GnomAD4 genome AF: 0.198 AC: 30142AN: 152078Hom.: 5863 Cov.: 32 AF XY: 0.191 AC XY: 14231AN XY: 74366
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at