1-154926405-C-T
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBP6BS2
The NM_006556.4(PMVK):c.391G>A(p.Val131Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000762 in 1,613,902 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 Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V131L) has been classified as Uncertain significance.
Frequency
Consequence
NM_006556.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PMVK | NM_006556.4 | c.391G>A | p.Val131Ile | missense_variant | Exon 4 of 5 | ENST00000368467.4 | NP_006547.1 | |
PMVK | NM_001323011.3 | c.349G>A | p.Val117Ile | missense_variant | Exon 4 of 5 | NP_001309940.1 | ||
PMVK | NM_001323012.3 | c.166G>A | p.Val56Ile | missense_variant | Exon 4 of 5 | NP_001309941.1 | ||
PMVK | NM_001348696.2 | c.166G>A | p.Val56Ile | missense_variant | Exon 4 of 5 | NP_001335625.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000210 AC: 32AN: 152208Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000917 AC: 23AN: 250888Hom.: 0 AF XY: 0.0000811 AC XY: 11AN XY: 135682
GnomAD4 exome AF: 0.0000623 AC: 91AN: 1461576Hom.: 0 Cov.: 31 AF XY: 0.0000674 AC XY: 49AN XY: 727124
GnomAD4 genome AF: 0.000210 AC: 32AN: 152326Hom.: 0 Cov.: 32 AF XY: 0.000242 AC XY: 18AN XY: 74478
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.391G>A (p.V131I) alteration is located in exon 4 (coding exon 4) of the PMVK gene. This alteration results from a G to A substitution at nucleotide position 391, causing the valine (V) at amino acid position 131 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Porokeratosis 1, Mibelli type Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at