rs1241142887
Variant summary
Our verdict is Pathogenic. Variant got 13 ACMG points: 13P and 0B. PVS1PM2PP3PP5_Moderate
The NM_021120.4(DLG3):c.351T>A(p.Tyr117Ter) 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. Variant has been reported in ClinVar as Pathogenic (★). Synonymous variant affecting the same amino acid position (i.e. Y117Y) has been classified as Uncertain significance. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_021120.4 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DLG3 | NM_021120.4 | c.351T>A | p.Tyr117Ter | stop_gained | 1/19 | ENST00000374360.8 | |
DLG3 | XM_006724625.3 | c.351T>A | p.Tyr117Ter | stop_gained | 1/20 | ||
DLG3 | XM_011530883.2 | c.351T>A | p.Tyr117Ter | stop_gained | 1/19 | ||
DLG3 | XM_006724626.3 | c.351T>A | p.Tyr117Ter | stop_gained | 1/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DLG3 | ENST00000374360.8 | c.351T>A | p.Tyr117Ter | stop_gained | 1/19 | 1 | NM_021120.4 | ||
DLG3 | ENST00000194900.8 | c.351T>A | p.Tyr117Ter | stop_gained | 1/21 | 5 | P1 | ||
DLG3 | ENST00000463252.5 | n.417T>A | non_coding_transcript_exon_variant | 1/19 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 24
GnomAD4 exome Cov.: 30
GnomAD4 genome ? Cov.: 24
ClinVar
Submissions by phenotype
Inborn genetic diseases Pathogenic:1
Pathogenic, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 17, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at