NM_002230.4(JUP):c.1711G>T (p.Ala571Ser) AND multiple conditions

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

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 31, 2021
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:: RCV001241393.5

Allele description

NM_002230.4(JUP):c.1711G>T (p.Ala571Ser)

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.1711G>T (p.Ala571Ser)

HGVS:

NC_000017.11:g.41758461C>A
NG_009090.2:g.33252G>T
NM_001352773.2:c.1711G>T
NM_001352774.2:c.1711G>T
NM_001352775.2:c.1711G>T
NM_001352776.2:c.1711G>T
NM_001352777.2:c.1711G>T
NM_002230.4:c.1711G>TMANE SELECT
NM_021991.4:c.1711G>T
NP_001339702.1:p.Ala571Ser
NP_001339703.1:p.Ala571Ser
NP_001339704.1:p.Ala571Ser
NP_001339705.1:p.Ala571Ser
NP_001339706.1:p.Ala571Ser
NP_002221.1:p.Ala571Ser
NP_068831.1:p.Ala571Ser
LRG_401t1:c.1711G>T
LRG_401t2:c.1711G>T
LRG_401:g.33252G>T
NC_000017.10:g.39914713C>A
NM_002230.2:c.1711G>T
NM_021991.2:c.1711G>T
c.1711G>T

Protein change:

A571S

Links:

dbSNP: rs397517297

NCBI 1000 Genomes Browser:

rs397517297

Molecular consequence:

NM_001352773.2:c.1711G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001352774.2:c.1711G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001352775.2:c.1711G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001352776.2:c.1711G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001352777.2:c.1711G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_002230.4:c.1711G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_021991.4:c.1711G>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
SCV001414407	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 31, 2021)	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

SCV001414407

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 31, 2021)

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, SCV001414407.3

#	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 with serine at codon 571 of the JUP protein (p.Ala571Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with JUP-related conditions. ClinVar contains an entry for this variant (Variation ID: 45839). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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: Feb 7, 2023

ClinVar

Relating variation to medicine