12-104251668-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001093771.3(TXNRD1):c.233G>A(p.Arg78His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000112 in 1,613,696 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R78C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001093771.3 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 |
---|---|---|---|---|---|---|---|
TXNRD1 | NM_001093771.3 | c.233G>A | p.Arg78His | missense_variant | 2/17 | ENST00000525566.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TXNRD1 | ENST00000525566.6 | c.233G>A | p.Arg78His | missense_variant | 2/17 | 1 | NM_001093771.3 | P1 | |
TXNRD1 | ENST00000526006.1 | n.123G>A | non_coding_transcript_exon_variant | 1/5 | 1 | ||||
TXNRD1 | ENST00000534282.1 | n.228G>A | non_coding_transcript_exon_variant | 2/3 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152116Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000281 AC: 7AN: 249060Hom.: 0 AF XY: 0.0000370 AC XY: 5AN XY: 135128
GnomAD4 exome AF: 0.0000109 AC: 16AN: 1461580Hom.: 0 Cov.: 33 AF XY: 0.00000963 AC XY: 7AN XY: 727082
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152116Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74282
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at