rs2373396
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_152706.4(TEX47):āc.142G>Cā(p.Asp48His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.147 in 1,613,358 control chromosomes in the GnomAD database, including 18,049 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/18 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_152706.4 missense
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 |
---|---|---|---|---|---|---|---|
TEX47 | NM_152706.4 | c.142G>C | p.Asp48His | missense_variant | 2/2 | ENST00000297203.3 | |
ZNF804B | NM_181646.5 | c.108+34717C>G | intron_variant | ENST00000333190.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TEX47 | ENST00000297203.3 | c.142G>C | p.Asp48His | missense_variant | 2/2 | 1 | NM_152706.4 | P1 | |
ZNF804B | ENST00000333190.5 | c.108+34717C>G | intron_variant | 1 | NM_181646.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.162 AC: 24591AN: 151938Hom.: 2044 Cov.: 32
GnomAD3 exomes AF: 0.139 AC: 34822AN: 250848Hom.: 2610 AF XY: 0.136 AC XY: 18429AN XY: 135584
GnomAD4 exome AF: 0.145 AC: 212138AN: 1461302Hom.: 16001 Cov.: 34 AF XY: 0.143 AC XY: 104110AN XY: 726960
GnomAD4 genome AF: 0.162 AC: 24613AN: 152056Hom.: 2048 Cov.: 32 AF XY: 0.160 AC XY: 11903AN XY: 74288
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at