chr12-95287717-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_017599.4(VEZT):āc.1382A>Cā(p.Gln461Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000208 in 1,443,894 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_017599.4 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 | UniProt |
---|---|---|---|---|---|---|---|
VEZT | NM_017599.4 | c.1382A>C | p.Gln461Pro | missense_variant | 9/12 | ENST00000436874.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
VEZT | ENST00000436874.6 | c.1382A>C | p.Gln461Pro | missense_variant | 9/12 | 1 | NM_017599.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000446 AC: 1AN: 224064Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 120700
GnomAD4 exome AF: 0.00000208 AC: 3AN: 1443894Hom.: 0 Cov.: 30 AF XY: 0.00000140 AC XY: 1AN XY: 716440
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 13, 2021 | The c.1382A>C (p.Q461P) alteration is located in exon 9 (coding exon 9) of the VEZT gene. This alteration results from a A to C substitution at nucleotide position 1382, causing the glutamine (Q) at amino acid position 461 to be replaced by a proline (P). 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