NM_032243.6:c.344C>G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_032243.6(TXNDC2):c.344C>G(p.Ala115Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000343 in 1,455,692 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032243.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TXNDC2 | NM_032243.6 | c.344C>G | p.Ala115Gly | missense_variant | Exon 2 of 2 | ENST00000357775.6 | NP_115619.4 | |
TXNDC2 | NM_001098529.2 | c.545C>G | p.Ala182Gly | missense_variant | Exon 2 of 2 | NP_001091999.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 29
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251424Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135876
GnomAD4 exome AF: 0.00000343 AC: 5AN: 1455692Hom.: 0 Cov.: 129 AF XY: 0.00000138 AC XY: 1AN XY: 724218
GnomAD4 genome Cov.: 29
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.545C>G (p.A182G) alteration is located in exon 2 (coding exon 2) of the TXNDC2 gene. This alteration results from a C to G substitution at nucleotide position 545, causing the alanine (A) at amino acid position 182 to be replaced by a glycine (G). 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