chr2-70932856-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_012476.3(VAX2):c.525G>T(p.Glu175Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000279 in 1,613,410 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012476.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
VAX2 | NM_012476.3 | c.525G>T | p.Glu175Asp | missense_variant | 3/3 | ENST00000234392.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
VAX2 | ENST00000234392.3 | c.525G>T | p.Glu175Asp | missense_variant | 3/3 | 1 | NM_012476.3 | P1 | |
VAX2 | ENST00000432367.6 | c.*45+8518G>T | intron_variant, NMD_transcript_variant | 5 | |||||
VAX2 | ENST00000646783.1 | c.80-6562G>T | intron_variant, NMD_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0000198 AC: 3AN: 151890Hom.: 0 Cov.: 29
GnomAD3 exomes AF: 0.00000798 AC: 2AN: 250754Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135612
GnomAD4 exome AF: 0.0000287 AC: 42AN: 1461520Hom.: 0 Cov.: 32 AF XY: 0.0000358 AC XY: 26AN XY: 727064
GnomAD4 genome AF: 0.0000198 AC: 3AN: 151890Hom.: 0 Cov.: 29 AF XY: 0.0000270 AC XY: 2AN XY: 74164
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 06, 2023 | The c.525G>T (p.E175D) alteration is located in exon 3 (coding exon 3) of the VAX2 gene. This alteration results from a G to T substitution at nucleotide position 525, causing the glutamic acid (E) at amino acid position 175 to be replaced by an aspartic acid (D). 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