X-103775144-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000494475.5(PLP1):c.-144+689G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.197 in 111,566 control chromosomes in the GnomAD database, including 1,700 homozygotes. There are 6,244 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000494475.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PLP1 | ENST00000434483.5 | c.-144+782G>A | intron_variant | 2 | |||||
PLP1 | ENST00000494475.5 | c.-144+689G>A | intron_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.197 AC: 21964AN: 111511Hom.: 1700 Cov.: 23 AF XY: 0.185 AC XY: 6234AN XY: 33707
GnomAD4 genome AF: 0.197 AC: 21980AN: 111566Hom.: 1700 Cov.: 23 AF XY: 0.185 AC XY: 6244AN XY: 33772
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at