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NM_001943.5(DSG2):c.2335-7A>G

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 15, 2016)
Last evaluated:
Dec 8, 2015
Accession:
VCV000222569.1
Variation ID:
222569
Description:
single nucleotide variant
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NM_001943.5(DSG2):c.2335-7A>G

Allele ID
224540
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q12.1
Genomic location
18: 31545714 (GRCh38) GRCh38 UCSC
18: 29125677 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.31545714A>G
NC_000018.9:g.29125677A>G
NM_001943.5:c.2335-7A>G MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000018.10:31545713:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (C)

Allele frequency
-
Links
ClinGen: CA079491
dbSNP: rs528851283
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 Dec 8, 2015 RCV000208322.1
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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
DSG2-AS1 - - - GRCh38 - 435

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 08, 2015)
criteria provided, single submitter
Method: clinical testing
Primary familial hypertrophic cardiomyopathy
Allele origin: germline
Blueprint Genetics
Accession: SCV000263861.2
Submitted: (Jan 15, 2016)
Comment:
Found together with pathogenic MYBPC3:NM_000256.3:c.3181C>T
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 rs528851283...

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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 Jun 14, 2021