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NM_001943.5(DSG2):c.919C>G (p.Leu307Val) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 22, 2016
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:
RCV000618954.2

Allele description [Variation Report for NM_001943.5(DSG2):c.919C>G (p.Leu307Val)]

NM_001943.5(DSG2):c.919C>G (p.Leu307Val)

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.919C>G (p.Leu307Val)
HGVS:
  • NC_000018.10:g.31524793C>G
  • NG_007072.3:g.31552C>G
  • NM_001943.5:c.919C>GMANE SELECT
  • NP_001934.2:p.Leu307Val
  • LRG_397t1:c.919C>G
  • LRG_397:g.31552C>G
  • NC_000018.9:g.29104756C>G
  • NM_001943.3:c.919C>G
Protein change:
L307V
Links:
dbSNP: rs1052070604
NCBI 1000 Genomes Browser:
rs1052070604
Molecular consequence:
  • NM_001943.5:c.919C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000736717Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Nov 22, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000736717.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.L307V variant (also known as c.919C>G), located in coding exon 8 of the DSG2 gene, results from a C to G substitution at nucleotide position 919. The leucine at codon 307 is replaced by valine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 5980 samples (11960 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 20, 2024