rs8093731
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000261590.13(DSG2):c.46-9244C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0831 in 152,056 control chromosomes in the GnomAD database, including 1,347 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.083 ( 1347 hom., cov: 32)
Consequence
DSG2
ENST00000261590.13 intron
ENST00000261590.13 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.245
Genes affected
DSG2 (HGNC:3049): (desmoglein 2) This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10. [provided by RefSeq, Jan 2016]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.83).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.246 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DSG2 | NM_001943.5 | c.46-9244C>T | intron_variant | ENST00000261590.13 | NP_001934.2 | |||
DSG2 | XM_047437315.1 | c.-527-303C>T | intron_variant | XP_047293271.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DSG2 | ENST00000261590.13 | c.46-9244C>T | intron_variant | 1 | NM_001943.5 | ENSP00000261590 | P1 | |||
DSG2 | ENST00000585206.1 | c.46-9244C>T | intron_variant | 2 | ENSP00000462503 | |||||
DSG2 | ENST00000682241.2 | c.46-9244C>T | intron_variant | ENSP00000507600 | ||||||
DSG2 | ENST00000683654.1 | c.46-9244C>T | intron_variant | ENSP00000506971 |
Frequencies
GnomAD3 genomes AF: 0.0831 AC: 12628AN: 151938Hom.: 1352 Cov.: 32
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.0831 AC: 12643AN: 152056Hom.: 1347 Cov.: 32 AF XY: 0.0829 AC XY: 6161AN XY: 74338
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335
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3478
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
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Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at