rs614486
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001145474.4(TEX38):āc.312T>Gā(p.Asp104Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.309 in 1,551,320 control chromosomes in the GnomAD database, including 84,751 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/17 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001145474.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TEX38 | NM_001145474.4 | c.312T>G | p.Asp104Glu | missense_variant | 2/2 | ENST00000334122.5 | |
TEX38 | NM_001300863.2 | c.150T>G | p.Asp50Glu | missense_variant | 2/2 | ||
TEX38 | NM_001300864.2 | c.84T>G | p.Asp28Glu | missense_variant | 2/2 | ||
TEX38 | XM_011541421.4 | c.315T>G | p.Asp105Glu | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TEX38 | ENST00000334122.5 | c.312T>G | p.Asp104Glu | missense_variant | 2/2 | 1 | NM_001145474.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.400 AC: 60701AN: 151830Hom.: 13896 Cov.: 32
GnomAD3 exomes AF: 0.376 AC: 58814AN: 156336Hom.: 12827 AF XY: 0.368 AC XY: 30511AN XY: 82902
GnomAD4 exome AF: 0.299 AC: 418200AN: 1399372Hom.: 70797 Cov.: 39 AF XY: 0.300 AC XY: 207254AN XY: 690202
GnomAD4 genome ? AF: 0.400 AC: 60823AN: 151948Hom.: 13954 Cov.: 32 AF XY: 0.407 AC XY: 30268AN XY: 74278
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at