U.S. flag

An official website of the United States government

NM_002230.4(JUP):c.2089A>T (p.Met697Leu) AND Naxos disease

Germline classification:
Benign (2 submissions)
Last evaluated:
Aug 19, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000020467.18

Allele description [Variation Report for NM_002230.4(JUP):c.2089A>T (p.Met697Leu)]

NM_002230.4(JUP):c.2089A>T (p.Met697Leu)

Gene:
JUP:junction plakoglobin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_002230.4(JUP):c.2089A>T (p.Met697Leu)
Other names:
p.M697L:ATG>TTG
HGVS:
  • NC_000017.11:g.41755893T>A
  • NG_009090.2:g.35820A>T
  • NM_001352773.2:c.2089A>T
  • NM_001352774.2:c.2089A>T
  • NM_001352775.2:c.2089A>T
  • NM_001352776.2:c.2089A>T
  • NM_001352777.2:c.2089A>T
  • NM_002230.4:c.2089A>TMANE SELECT
  • NM_021991.4:c.2089A>T
  • NP_001339702.1:p.Met697Leu
  • NP_001339703.1:p.Met697Leu
  • NP_001339704.1:p.Met697Leu
  • NP_001339705.1:p.Met697Leu
  • NP_001339706.1:p.Met697Leu
  • NP_002221.1:p.Met697Leu
  • NP_068831.1:p.Met697Leu
  • LRG_401t1:c.2089A>T
  • LRG_401t2:c.2089A>T
  • LRG_401:g.35820A>T
  • NC_000017.10:g.39912145T>A
  • NM_002230.2:c.2089A>T
  • NM_021991.2:c.2089A>T
  • NM_021991.4:c.2089A>T
  • P14923:p.Met697Leu
  • c.2089A>T
Protein change:
M697L
Links:
UniProtKB: P14923#VAR_037804; dbSNP: rs1126821
NCBI 1000 Genomes Browser:
rs1126821
Molecular consequence:
  • NM_001352773.2:c.2089A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352774.2:c.2089A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352775.2:c.2089A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352776.2:c.2089A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352777.2:c.2089A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002230.4:c.2089A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021991.4:c.2089A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Naxos disease (NXD)
Synonyms:
KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY; PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR; WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011017; MedGen: C1832600; Orphanet: 34217; OMIM: 601214

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000402700Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Benign
(Jan 12, 2018) 		germlineclinical testing

Citation Link,

SCV001980847Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Aug 19, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000402700.3

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

Description

This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.

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

From Genome-Nilou Lab, SCV001980847.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024