8-143921490-G-T
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PVS1PM2
The NM_201384.3(PLEC):c.8331C>A(p.Tyr2777Ter) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. Y2777Y) has been classified as Likely benign.
Frequency
Consequence
NM_201384.3 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PLEC | NM_201384.3 | c.8331C>A | p.Tyr2777Ter | stop_gained | 32/32 | ENST00000345136.8 | |
PLEC | NM_201378.4 | c.8289C>A | p.Tyr2763Ter | stop_gained | 32/32 | ENST00000356346.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PLEC | ENST00000345136.8 | c.8331C>A | p.Tyr2777Ter | stop_gained | 32/32 | 1 | NM_201384.3 | ||
PLEC | ENST00000356346.7 | c.8289C>A | p.Tyr2763Ter | stop_gained | 32/32 | 1 | NM_201378.4 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.0000242 AC: 6AN: 247434Hom.: 0 AF XY: 0.0000297 AC XY: 4AN XY: 134542
GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 1460638Hom.: 0 Cov.: 118 AF XY: 0.00 AC XY: 0AN XY: 726660
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at