NM_002230.4(JUP):c.1850C>T (p.Ala617Val) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 22, 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:: RCV000800924.15

Allele description [Variation Report for NM_002230.4(JUP):c.1850C>T (p.Ala617Val)]

NM_002230.4(JUP):c.1850C>T (p.Ala617Val)

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.1850C>T (p.Ala617Val)

HGVS:

NC_000017.11:g.41757708G>A
NG_009090.2:g.34005C>T
NM_001352773.2:c.1850C>T
NM_001352774.2:c.1850C>T
NM_001352775.2:c.1850C>T
NM_001352776.2:c.1850C>T
NM_001352777.2:c.1850C>T
NM_002230.4:c.1850C>TMANE SELECT
NM_021991.4:c.1850C>T
NP_001339702.1:p.Ala617Val
NP_001339703.1:p.Ala617Val
NP_001339704.1:p.Ala617Val
NP_001339705.1:p.Ala617Val
NP_001339706.1:p.Ala617Val
NP_002221.1:p.Ala617Val
NP_068831.1:p.Ala617Val
LRG_401t2:c.1850C>T
LRG_401:g.34005C>T
NC_000017.10:g.39913960G>A
NM_002230.2:c.1850C>T

Protein change:

A617V

Links:

dbSNP: rs782465804

NCBI 1000 Genomes Browser:

rs782465804

Molecular consequence:

NM_001352773.2:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001352774.2:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001352775.2:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001352776.2:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001352777.2:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_002230.4:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_021991.4:c.1850C>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

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
SCV000940668	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 22, 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

SCV000940668

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 22, 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):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV000940668.5

#	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 alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 617 of the JUP protein (p.Ala617Val). This variant has not been reported in the literature in individuals affected with JUP-related conditions. 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. 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. ClinVar contains an entry for this variant (Variation ID: 646605). This variant is present in population databases (rs782465804, gnomAD 0.04%).

#	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: Apr 20, 2024

ClinVar

Relating variation to medicine