rs3752627
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_005647.4(TBL1X):c.-130-36920A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.475 in 111,337 control chromosomes in the GnomAD database, including 10,020 homozygotes. There are 15,748 hemizygotes in GnomAD. 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
Consequence
NM_005647.4 intron
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 |
---|---|---|---|---|---|---|---|
TBL1X | NM_005647.4 | c.-130-36920A>G | intron_variant | ENST00000645353.2 | |||
TBL1X | NM_001139466.1 | c.-130-36920A>G | intron_variant | ||||
TBL1X | NM_001139467.1 | c.-138-36920A>G | intron_variant | ||||
TBL1X | NM_001139468.1 | c.-138-36920A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TBL1X | ENST00000645353.2 | c.-130-36920A>G | intron_variant | NM_005647.4 |
Frequencies
GnomAD3 genomes AF: 0.475 AC: 52807AN: 111285Hom.: 10024 Cov.: 23 AF XY: 0.469 AC XY: 15706AN XY: 33493
GnomAD4 genome AF: 0.475 AC: 52833AN: 111337Hom.: 10020 Cov.: 23 AF XY: 0.469 AC XY: 15748AN XY: 33555
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at