NM_002230.4(JUP):c.1320T>A (p.His440Gln) AND multiple conditions

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 6, 2023
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:: RCV003813696.2

Allele description

NM_002230.4(JUP):c.1320T>A (p.His440Gln)

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.1320T>A (p.His440Gln)

HGVS:

NC_000017.11:g.41763160A>T
NG_009090.2:g.28553T>A
NM_001352773.2:c.1320T>A
NM_001352774.2:c.1320T>A
NM_001352775.2:c.1320T>A
NM_001352776.2:c.1320T>A
NM_001352777.2:c.1320T>A
NM_002230.4:c.1320T>AMANE SELECT
NM_021991.4:c.1320T>A
NP_001339702.1:p.His440Gln
NP_001339703.1:p.His440Gln
NP_001339704.1:p.His440Gln
NP_001339705.1:p.His440Gln
NP_001339706.1:p.His440Gln
NP_002221.1:p.His440Gln
NP_002221.1:p.His440Gln
NP_068831.1:p.His440Gln
NP_068831.1:p.His440Gln
LRG_401t1:c.1320T>A
LRG_401t2:c.1320T>A
LRG_401:g.28553T>A
LRG_401p1:p.His440Gln
LRG_401p2:p.His440Gln
NC_000017.10:g.39919412A>T
NM_002230.2:c.1320T>A
NM_021991.2:c.1320T>A

Protein change:

H440Q

Molecular consequence:

NM_001352773.2:c.1320T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352774.2:c.1320T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352775.2:c.1320T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352776.2:c.1320T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352777.2:c.1320T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002230.4:c.1320T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_021991.4:c.1320T>A - 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

Name:: Arrhythmogenic right ventricular dysplasia 12
Synonyms:: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; Arrhythmogenic right ventricular cardiomyopathy, type 12
Identifiers:: MONDO: MONDO:0012684; MedGen: C1969081; OMIM: 611528

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004610729	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 6, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004610729

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 6, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV004610729.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 440 of the JUP protein (p.His440Gln). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with JUP-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant¬†is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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