8-37762711-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_007198.4(PLPBP):c.52C>T(p.Arg18Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000348 in 1,437,760 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. R18R) has been classified as Likely benign.
Frequency
Consequence
NM_007198.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PLPBP | NM_007198.4 | c.52C>T | p.Arg18Trp | missense_variant | Exon 1 of 8 | ENST00000328195.8 | NP_009129.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000193 AC: 4AN: 207358Hom.: 0 AF XY: 0.0000177 AC XY: 2AN XY: 112718
GnomAD4 exome AF: 0.00000348 AC: 5AN: 1437760Hom.: 0 Cov.: 34 AF XY: 0.00000420 AC XY: 3AN XY: 713802
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Epilepsy, early-onset, vitamin B6-dependent Uncertain:1
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at