10-125656156-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001128202.3(TEX36):āc.305A>Gā(p.His102Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000431 in 1,391,602 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. H102Y) has been classified as Uncertain significance.
Frequency
Consequence
NM_001128202.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TEX36 | NM_001128202.3 | c.305A>G | p.His102Arg | missense_variant | 4/4 | ENST00000368821.4 | |
TEX36 | NM_001318133.2 | c.264+4865A>G | intron_variant | ||||
TEX36 | XM_005269817.5 | c.264+4865A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TEX36 | ENST00000368821.4 | c.305A>G | p.His102Arg | missense_variant | 4/4 | 1 | NM_001128202.3 | P1 | |
TEX36 | ENST00000532135.5 | c.264+4865A>G | intron_variant | 1 | |||||
TEX36 | ENST00000526819.5 | c.264+4865A>G | intron_variant | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000662 AC: 1AN: 150992Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 80172
GnomAD4 exome AF: 0.00000431 AC: 6AN: 1391602Hom.: 0 Cov.: 32 AF XY: 0.00000437 AC XY: 3AN XY: 686198
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at