rs201826850
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PVS1_StrongPM2
The NM_004415.4(DSP):c.8462C>A(p.Ser2821Ter) variant causes a stop gained change. The variant allele was found at a frequency of 0.00000657 in 152,222 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. S2821S) has been classified as Likely benign.
Frequency
Consequence
NM_004415.4 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DSP | NM_004415.4 | c.8462C>A | p.Ser2821Ter | stop_gained | 24/24 | ENST00000379802.8 | |
DSP | NM_001319034.2 | c.7133C>A | p.Ser2378Ter | stop_gained | 24/24 | ||
DSP | NM_001008844.3 | c.6665C>A | p.Ser2222Ter | stop_gained | 24/24 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DSP | ENST00000379802.8 | c.8462C>A | p.Ser2821Ter | stop_gained | 24/24 | 1 | NM_004415.4 | P2 | |
DSP | ENST00000418664.2 | c.6665C>A | p.Ser2222Ter | stop_gained | 24/24 | 1 | A2 | ||
DSP | ENST00000710359.1 | c.7133C>A | p.Ser2378Ter | stop_gained | 24/24 | A2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152222Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 38
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152222Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74368
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at