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NM_001943.5(DSG2):c.828+10A>C

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 20, 2019
Accession:
VCV000326476.3
Variation ID:
326476
Description:
single nucleotide variant
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NM_001943.5(DSG2):c.828+10A>C

Allele ID
331173
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q12.1
Genomic location
18: 31524595 (GRCh38) GRCh38 UCSC
18: 29104558 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_397:g.31354A>C
LRG_397t1:c.828+10A>C
NC_000018.10:g.31524595A>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000018.10:31524594:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10641361
dbSNP: rs886053712
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000345449.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000401875.2
Likely benign 1 criteria provided, single submitter Nov 20, 2019 RCV001430126.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DSG2 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
638 1094

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy, ARVC
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000408215.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Dilated Cardiomyopathy, Dominant
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000408214.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Nov 20, 2019)
criteria provided, single submitter
Method: clinical testing
Arrhythmogenic right ventricular cardiomyopathy, type 10
Allele origin: germline
Invitae
Accession: SCV001632854.1
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs886053712...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 29, 2021