NM_001943.5(DSG2):c.961T>A (p.Phe321Ile) AND Arrhythmogenic right ventricular cardiomyopathy

Clinical significance:Uncertain significance (Last evaluated: Oct 20, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000238845.1

Allele description [Variation Report for NM_001943.5(DSG2):c.961T>A (p.Phe321Ile)]

NM_001943.5(DSG2):c.961T>A (p.Phe321Ile)

Gene:
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.961T>A (p.Phe321Ile)
HGVS:
  • NC_000018.10:g.31524835T>A
  • NG_007072.3:g.31594T>A
  • NM_001943.5:c.961T>AMANE SELECT
  • NP_001934.2:p.Phe321Ile
  • LRG_397t1:c.961T>A
  • LRG_397:g.31594T>A
  • NC_000018.9:g.29104798T>A
  • NM_001943.3:c.961T>A
  • NM_001943.4:c.961T>A
Protein change:
F321I
Links:
dbSNP: rs201040643
NCBI 1000 Genomes Browser:
rs201040643
Molecular consequence:
  • NM_001943.5:c.961T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Arrhythmogenic right ventricular cardiomyopathy (ARVD)
Synonyms:
Cardiomyopathy, ARVC; Arrhythmogenic right ventricular dysplasia
Identifiers:
MONDO: MONDO:0016587; MedGen: C0349788; OMIM: PS107970

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000297110Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphiacriteria provided, single submitter
Uncertain significance
(Oct 20, 2015)
unknownclinical testing

DGD_Variant_Analysis_Guidelines.docx

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia, SCV000297110.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

Support Center