X-9688147-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_005647.4(TBL1X):c.488C>T(p.Ala163Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000918 in 1,198,766 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 6 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005647.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TBL1X | NM_005647.4 | c.488C>T | p.Ala163Val | missense_variant | 7/18 | ENST00000645353.2 | NP_005638.1 | |
TBL1X | NM_001139466.1 | c.488C>T | p.Ala163Val | missense_variant | 7/18 | NP_001132938.1 | ||
TBL1X | NM_001139467.1 | c.335C>T | p.Ala112Val | missense_variant | 6/17 | NP_001132939.1 | ||
TBL1X | NM_001139468.1 | c.335C>T | p.Ala112Val | missense_variant | 7/18 | NP_001132940.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TBL1X | ENST00000645353.2 | c.488C>T | p.Ala163Val | missense_variant | 7/18 | NM_005647.4 | ENSP00000496215 |
Frequencies
GnomAD3 genomes AF: 0.0000178 AC: 2AN: 112208Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34368
GnomAD3 exomes AF: 0.0000193 AC: 3AN: 155224Hom.: 0 AF XY: 0.0000395 AC XY: 2AN XY: 50684
GnomAD4 exome AF: 0.00000828 AC: 9AN: 1086558Hom.: 0 Cov.: 32 AF XY: 0.0000169 AC XY: 6AN XY: 354970
GnomAD4 genome AF: 0.0000178 AC: 2AN: 112208Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34368
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 07, 2022 | The c.488C>T (p.A163V) alteration is located in exon 7 (coding exon 4) of the TBL1X gene. This alteration results from a C to T substitution at nucleotide position 488, causing the alanine (A) at amino acid position 163 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at