X-9710533-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_005647.4(TBL1X):c.1439+773C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.286 in 110,858 control chromosomes in the GnomAD database, including 3,528 homozygotes. There are 9,570 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.1439+773C>T | intron_variant | ENST00000645353.2 | |||
TBL1X | NM_001139466.1 | c.1439+773C>T | intron_variant | ||||
TBL1X | NM_001139467.1 | c.1286+773C>T | intron_variant | ||||
TBL1X | NM_001139468.1 | c.1286+773C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TBL1X | ENST00000645353.2 | c.1439+773C>T | intron_variant | NM_005647.4 |
Frequencies
GnomAD3 genomes AF: 0.286 AC: 31663AN: 110805Hom.: 3519 Cov.: 22 AF XY: 0.289 AC XY: 9563AN XY: 33081
GnomAD4 genome AF: 0.286 AC: 31679AN: 110858Hom.: 3528 Cov.: 22 AF XY: 0.289 AC XY: 9570AN XY: 33144
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at