chr8-143930294-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_201384.3(PLEC):āc.2462C>Gā(p.Thr821Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000069 in 1,450,180 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. T821I) 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.2462C>G | p.Thr821Ser | missense_variant | 21/32 | ENST00000345136.8 | |
PLEC | NM_201378.4 | c.2420C>G | p.Thr807Ser | missense_variant | 21/32 | ENST00000356346.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PLEC | ENST00000345136.8 | c.2462C>G | p.Thr821Ser | missense_variant | 21/32 | 1 | NM_201384.3 | ||
PLEC | ENST00000356346.7 | c.2420C>G | p.Thr807Ser | missense_variant | 21/32 | 1 | NM_201378.4 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD3 exomes AF: 0.00000439 AC: 1AN: 227802Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 125504
GnomAD4 exome AF: 6.90e-7 AC: 1AN: 1450180Hom.: 0 Cov.: 65 AF XY: 0.00 AC XY: 0AN XY: 721462
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at