8-143921771-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_201384.3(PLEC):c.8050C>G(p.Arg2684Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000124 in 1,611,778 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. 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. R2684Q) has been classified as Likely benign.
Frequency
Consequence
NM_201384.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PLEC | NM_201384.3 | c.8050C>G | p.Arg2684Gly | missense_variant | 32/32 | ENST00000345136.8 | |
PLEC | NM_201378.4 | c.8008C>G | p.Arg2670Gly | missense_variant | 32/32 | ENST00000356346.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PLEC | ENST00000345136.8 | c.8050C>G | p.Arg2684Gly | missense_variant | 32/32 | 1 | NM_201384.3 | ||
PLEC | ENST00000356346.7 | c.8008C>G | p.Arg2670Gly | missense_variant | 32/32 | 1 | NM_201378.4 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152234Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.00000413 AC: 1AN: 241882Hom.: 0 AF XY: 0.00000756 AC XY: 1AN XY: 132198
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459426Hom.: 0 Cov.: 78 AF XY: 0.00 AC XY: 0AN XY: 726078
GnomAD4 genome ? AF: 0.00000656 AC: 1AN: 152352Hom.: 0 Cov.: 34 AF XY: 0.0000134 AC XY: 1AN XY: 74498
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at