X-8465889-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001001888.4(VCX3B):c.247G>A(p.Glu83Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001001888.4 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
VCX3B | NM_001001888.4 | c.247G>A | p.Glu83Lys | missense_variant | 3/3 | ENST00000381032.6 | NP_001001888.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
VCX3B | ENST00000381032.6 | c.247G>A | p.Glu83Lys | missense_variant | 3/3 | 5 | NM_001001888.4 | ENSP00000370420 | P1 |
Frequencies
GnomAD3 genomes Cov.: 13
GnomAD4 exome Cov.: 27
GnomAD4 genome Cov.: 13
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 07, 2024 | The c.247G>A (p.E83K) alteration is located in exon 3 (coding exon 2) of the VCX3B gene. This alteration results from a G to A substitution at nucleotide position 247, causing the glutamic acid (E) at amino acid position 83 to be replaced by a lysine (K). 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
Publications
No publications associated with this variant yet.