rs782775290
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_201384.3(PLEC):c.2852G>C(p.Arg951Pro) variant causes a missense change. The variant allele was found at a frequency of 0.00000138 in 1,447,532 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R951Q) 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.2852G>C | p.Arg951Pro | missense_variant | 23/32 | ENST00000345136.8 | |
PLEC | NM_201378.4 | c.2810G>C | p.Arg937Pro | missense_variant | 23/32 | ENST00000356346.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PLEC | ENST00000345136.8 | c.2852G>C | p.Arg951Pro | missense_variant | 23/32 | 1 | NM_201384.3 | ||
PLEC | ENST00000356346.7 | c.2810G>C | p.Arg937Pro | missense_variant | 23/32 | 1 | NM_201378.4 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD3 exomes AF: 0.00000443 AC: 1AN: 225604Hom.: 0 AF XY: 0.00000799 AC XY: 1AN XY: 125142
GnomAD4 exome AF: 0.00000138 AC: 2AN: 1447532Hom.: 0 Cov.: 64 AF XY: 0.00000139 AC XY: 1AN XY: 720612
GnomAD4 genome ? Cov.: 34
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Athena Diagnostics | Dec 30, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at