X-70553312-T-C
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_031276.3(TEX11):c.2393A>G(p.Gln798Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000126 in 1,182,419 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 50 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_031276.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TEX11 | NM_031276.3 | c.2393A>G | p.Gln798Arg | missense_variant | 27/30 | ENST00000374333.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TEX11 | ENST00000374333.7 | c.2393A>G | p.Gln798Arg | missense_variant | 27/30 | 1 | NM_031276.3 | P2 | |
TEX11 | ENST00000344304.3 | c.2438A>G | p.Gln813Arg | missense_variant | 26/29 | 5 | A2 | ||
TEX11 | ENST00000395889.6 | c.2438A>G | p.Gln813Arg | missense_variant | 28/31 | 2 | A2 | ||
TEX11 | ENST00000374320.6 | c.1463A>G | p.Gln488Arg | missense_variant | 16/19 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.000133 AC: 15AN: 112465Hom.: 0 Cov.: 23 AF XY: 0.000202 AC XY: 7AN XY: 34625
GnomAD3 exomes AF: 0.000298 AC: 51AN: 170887Hom.: 0 AF XY: 0.000319 AC XY: 18AN XY: 56349
GnomAD4 exome AF: 0.000125 AC: 134AN: 1069954Hom.: 0 Cov.: 22 AF XY: 0.000127 AC XY: 43AN XY: 338850
GnomAD4 genome ? AF: 0.000133 AC: 15AN: 112465Hom.: 0 Cov.: 23 AF XY: 0.000202 AC XY: 7AN XY: 34625
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Mar 01, 2024 | TEX11: BP4, BS2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at