10-125661853-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001128202.3(TEX36):c.176G>A(p.Arg59Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000226 in 1,551,708 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 (★).
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TEX36 | NM_001128202.3 | c.176G>A | p.Arg59Gln | missense_variant | Exon 2 of 4 | ENST00000368821.4 | NP_001121674.1 | |
TEX36 | NM_001318133.2 | c.176G>A | p.Arg59Gln | missense_variant | Exon 2 of 4 | NP_001305062.1 | ||
TEX36 | XM_005269817.5 | c.176G>A | p.Arg59Gln | missense_variant | Exon 2 of 4 | XP_005269874.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TEX36 | ENST00000368821.4 | c.176G>A | p.Arg59Gln | missense_variant | Exon 2 of 4 | 1 | NM_001128202.3 | ENSP00000357811.3 | ||
TEX36 | ENST00000532135.5 | c.176G>A | p.Arg59Gln | missense_variant | Exon 2 of 4 | 1 | ENSP00000431764.1 | |||
TEX36 | ENST00000526819.5 | c.176G>A | p.Arg59Gln | missense_variant | Exon 2 of 4 | 5 | ENSP00000434299.1 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152204Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000383 AC: 6AN: 156486Hom.: 0 AF XY: 0.0000482 AC XY: 4AN XY: 82918
GnomAD4 exome AF: 0.0000200 AC: 28AN: 1399504Hom.: 0 Cov.: 31 AF XY: 0.0000217 AC XY: 15AN XY: 690262
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152204Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.176G>A (p.R59Q) alteration is located in exon 2 (coding exon 2) of the TEX36 gene. This alteration results from a G to A substitution at nucleotide position 176, causing the arginine (R) at amino acid position 59 to be replaced by a glutamine (Q). 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