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NM_001943.5(DSG2):c.2714A>C (p.Glu905Ala)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Aug 7, 2017
Accession:
VCV000451174.2
Variation ID:
451174
Description:
single nucleotide variant
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NM_001943.5(DSG2):c.2714A>C (p.Glu905Ala)

Allele ID
445958
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q12.1
Genomic location
18: 31546100 (GRCh38) GRCh38 UCSC
18: 29126063 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.31546100A>C
NC_000018.9:g.29126063A>C
NM_001943.5:c.2714A>C MANE Select NP_001934.2:p.Glu905Ala missense
... more HGVS
Protein change
E905A
Other names
-
Canonical SPDI
NC_000018.10:31546099:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA402146318
dbSNP: rs1555628237
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 Aug 7, 2017 RCV000520857.1
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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
(Aug 07, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000619838.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The E905A variant of uncertain significance in the DSG2 gene has not been published as pathogenic or been reported as benign to our knowledge. E905A … (more)

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 rs1555628237...

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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 Feb 27, 2021