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NM_001943.5(DSG2):c.291A>C (p.Pro97=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 19, 2019
Accession:
VCV000163201.2
Variation ID:
163201
Description:
single nucleotide variant
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NM_001943.5(DSG2):c.291A>C (p.Pro97=)

Allele ID
176663
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q12.1
Genomic location
18: 31520877 (GRCh38) GRCh38 UCSC
18: 29100840 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.31520877A>C
NC_000018.9:g.29100840A>C
NM_001943.5:c.291A>C MANE Select NP_001934.2:p.Pro97= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000018.10:31520876:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA021933
dbSNP: rs727502983
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jul 23, 2014 RCV000150533.1
Likely benign 1 criteria provided, single submitter Dec 19, 2019 RCV001430314.1
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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
Likely benign
(Jul 23, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000197747.4
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Pro97Pro in exon 4 of DSG2: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue … (more)
Likely benign
(Dec 19, 2019)
criteria provided, single submitter
Method: clinical testing
Arrhythmogenic right ventricular cardiomyopathy, type 10
Allele origin: germline
Invitae
Accession: SCV001633046.1
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 rs727502983...

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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 Jul 07, 2021