rs397517403
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP6
The NM_024422.6(DSC2):c.776-12T>G variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000031 in 1,612,974 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_024422.6 splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DSC2 | NM_024422.6 | c.776-12T>G | splice_polypyrimidine_tract_variant, intron_variant | ENST00000280904.11 | |||
DSC2 | NM_001406506.1 | c.347-12T>G | splice_polypyrimidine_tract_variant, intron_variant | ||||
DSC2 | NM_001406507.1 | c.347-12T>G | splice_polypyrimidine_tract_variant, intron_variant | ||||
DSC2 | NM_004949.5 | c.776-12T>G | splice_polypyrimidine_tract_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DSC2 | ENST00000280904.11 | c.776-12T>G | splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_024422.6 | P1 | |||
DSC2 | ENST00000251081.8 | c.776-12T>G | splice_polypyrimidine_tract_variant, intron_variant | 1 | |||||
DSC2 | ENST00000648081.1 | c.347-12T>G | splice_polypyrimidine_tract_variant, intron_variant | ||||||
DSC2 | ENST00000682357.1 | c.347-12T>G | splice_polypyrimidine_tract_variant, intron_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0000394 AC: 6AN: 152148Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000161 AC: 4AN: 248684Hom.: 0 AF XY: 0.0000223 AC XY: 3AN XY: 134428
GnomAD4 exome AF: 0.0000301 AC: 44AN: 1460826Hom.: 0 Cov.: 31 AF XY: 0.0000220 AC XY: 16AN XY: 726624
GnomAD4 genome ? AF: 0.0000394 AC: 6AN: 152148Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Aug 04, 2020 | proposed classification - variant undergoing re-assessment, contact laboratory - |
Arrhythmogenic right ventricular dysplasia 11 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Aug 16, 2023 | - - |
Cardiomyopathy Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Color Diagnostics, LLC DBA Color Health | Nov 16, 2018 | - - |
Familial isolated arrhythmogenic right ventricular dysplasia Benign:1
Likely benign, criteria provided, single submitter | clinical testing | All of Us Research Program, National Institutes of Health | Jan 11, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at