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NM_001943.5(DSG2):c.217-5G>T AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 25, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000241750.3

Allele description [Variation Report for NM_001943.5(DSG2):c.217-5G>T]

NM_001943.5(DSG2):c.217-5G>T

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.217-5G>T
HGVS:
  • NC_000018.10:g.31520798G>T
  • NG_007072.3:g.27557G>T
  • NM_001943.5:c.217-5G>TMANE SELECT
  • LRG_397t1:c.217-5G>T
  • LRG_397:g.27557G>T
  • NC_000018.9:g.29100761G>T
  • NM_001943.3:c.217-5G>T
  • NM_001943.4:c.217-5G>T
  • c.217-5G>T
Links:
dbSNP: rs80073511
NCBI 1000 Genomes Browser:
rs80073511
Molecular consequence:
  • NM_001943.5:c.217-5G>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000317824Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Jun 25, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000317824.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024