3-126607939-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_052883.3(TXNRD3):c.1898G>A(p.Gly633Glu) variant causes a missense change. The variant allele was found at a frequency of 0.00000464 in 1,508,392 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_052883.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TXNRD3 | ENST00000524230.9 | c.1898G>A | p.Gly633Glu | missense_variant | Exon 16 of 16 | 1 | NM_052883.3 | ENSP00000430031.4 | ||
TXNRD3 | ENST00000383572.3 | n.92G>A | non_coding_transcript_exon_variant | Exon 2 of 4 | 1 | |||||
TXNRD3 | ENST00000523403.3 | c.1790G>A | p.Gly597Glu | missense_variant | Exon 15 of 15 | 2 | ENSP00000429584.3 | |||
TXNRD3 | ENST00000518740.5 | n.275G>A | non_coding_transcript_exon_variant | Exon 3 of 3 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152132Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000362 AC: 5AN: 138050Hom.: 0 AF XY: 0.0000401 AC XY: 3AN XY: 74810
GnomAD4 exome AF: 0.00000442 AC: 6AN: 1356260Hom.: 0 Cov.: 29 AF XY: 0.00000452 AC XY: 3AN XY: 663976
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152132Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74310
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1898G>A (p.G633E) alteration is located in exon 16 (coding exon 16) of the TXNRD3 gene. This alteration results from a G to A substitution at nucleotide position 1898, causing the glycine (G) at amino acid position 633 to be replaced by a glutamic acid (E). 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