rs541223771
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 2P and 13B. PM2BP4_StrongBP6_Very_StrongBP7
The NM_024422.6(DSC2):c.525T>C(p.Gly175=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,712 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 Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. G175G) has been classified as Likely benign.
Frequency
Consequence
NM_024422.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DSC2 | NM_024422.6 | c.525T>C | p.Gly175= | synonymous_variant | 5/16 | ENST00000280904.11 | |
DSC2 | NM_004949.5 | c.525T>C | p.Gly175= | synonymous_variant | 5/17 | ||
DSC2 | NM_001406506.1 | c.96T>C | p.Gly32= | synonymous_variant | 5/16 | ||
DSC2 | NM_001406507.1 | c.96T>C | p.Gly32= | synonymous_variant | 5/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DSC2 | ENST00000280904.11 | c.525T>C | p.Gly175= | synonymous_variant | 5/16 | 1 | NM_024422.6 | P1 | |
DSC2 | ENST00000251081.8 | c.525T>C | p.Gly175= | synonymous_variant | 5/17 | 1 | |||
DSC2 | ENST00000648081.1 | c.96T>C | p.Gly32= | synonymous_variant | 6/17 | ||||
DSC2 | ENST00000682357.1 | c.96T>C | p.Gly32= | synonymous_variant | 5/16 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461712Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727168
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Arrhythmogenic right ventricular dysplasia 11 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 11, 2019 | - - |
Cardiomyopathy Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Color Diagnostics, LLC DBA Color Health | Sep 17, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at