8-143926855-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_201384.3(PLEC):āc.3973G>Cā(p.Glu1325Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,210 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E1325K) has been classified as Uncertain significance.
Frequency
Consequence
NM_201384.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PLEC | NM_201384.3 | c.3973G>C | p.Glu1325Gln | missense_variant | 30/32 | ENST00000345136.8 | |
PLEC | NM_201378.4 | c.3931G>C | p.Glu1311Gln | missense_variant | 30/32 | ENST00000356346.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PLEC | ENST00000345136.8 | c.3973G>C | p.Glu1325Gln | missense_variant | 30/32 | 1 | NM_201384.3 | ||
PLEC | ENST00000356346.7 | c.3931G>C | p.Glu1311Gln | missense_variant | 30/32 | 1 | NM_201378.4 |
Frequencies
GnomAD3 genomes Cov.: 35
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248810Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135268
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461210Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 726904
GnomAD4 genome Cov.: 35
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at