chr18-31068931-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PVS1_ModeratePM2
The NM_024422.6(DSC2):c.2471C>A(p.Ser824Ter) variant causes a stop gained change. 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. S824S) has been classified as Likely benign.
Frequency
Consequence
NM_024422.6 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DSC2 | NM_024422.6 | c.2471C>A | p.Ser824Ter | stop_gained | 15/16 | ENST00000280904.11 | |
DSC2 | NM_004949.5 | c.2471C>A | p.Ser824Ter | stop_gained | 15/17 | ||
DSC2 | NM_001406506.1 | c.2042C>A | p.Ser681Ter | stop_gained | 15/16 | ||
DSC2 | NM_001406507.1 | c.2042C>A | p.Ser681Ter | stop_gained | 15/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DSC2 | ENST00000280904.11 | c.2471C>A | p.Ser824Ter | stop_gained | 15/16 | 1 | NM_024422.6 | P1 | |
DSC2 | ENST00000251081.8 | c.2471C>A | p.Ser824Ter | stop_gained | 15/17 | 1 | |||
DSC2 | ENST00000648081.1 | c.2042C>A | p.Ser681Ter | stop_gained | 16/17 | ||||
DSC2 | ENST00000682357.1 | c.2042C>A | p.Ser681Ter | stop_gained | 15/16 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at