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NM_001943.5(DSG2):c.893_898del (p.Ala298_Asp299del)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 13, 2019
Accession:
VCV000835010.2
Variation ID:
835010
Description:
6bp deletion
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NM_001943.5(DSG2):c.893_898del (p.Ala298_Asp299del)

Allele ID
846782
Variant type
Deletion
Variant length
6 bp
Cytogenetic location
18q12.1
Genomic location
18: 31524763-31524768 (GRCh38) GRCh38 UCSC
18: 29104726-29104731 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.31524767_31524772del
NC_000018.9:g.29104730_29104735del
NM_001943.5:c.893_898del MANE Select NP_001934.2:p.Ala298_Asp299del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000018.10:31524762:GATGCAGATG:GATG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 13, 2019 RCV001035810.2
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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
(Dec 13, 2019)
criteria provided, single submitter
Method: clinical testing
Arrhythmogenic right ventricular cardiomyopathy, type 10
Allele origin: germline
Invitae
Accession: SCV001199147.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This variant, c.893_898del, results in the deletion of 2 amino acid(s) of the DSG2 protein (p.Ala298_Asp299del), but otherwise preserves the integrity of the reading frame. … (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.

Record last updated Mar 14, 2021