7-55472878-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_030796.5(VOPP1):c.496G>A(p.Glu166Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000071 in 1,407,912 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_030796.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000138 AC: 2AN: 145146Hom.: 0 Cov.: 19
GnomAD3 exomes AF: 0.0000131 AC: 1AN: 76244Hom.: 0 AF XY: 0.0000234 AC XY: 1AN XY: 42678
GnomAD4 exome AF: 0.00000634 AC: 8AN: 1262766Hom.: 0 Cov.: 22 AF XY: 0.00000646 AC XY: 4AN XY: 618884
GnomAD4 genome AF: 0.0000138 AC: 2AN: 145146Hom.: 0 Cov.: 19 AF XY: 0.0000284 AC XY: 2AN XY: 70338
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.496G>A (p.E166K) alteration is located in exon 5 (coding exon 5) of the VOPP1 gene. This alteration results from a G to A substitution at nucleotide position 496, causing the glutamic acid (E) at amino acid position 166 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