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NM_002230.4(JUP):c.114C>A (p.Ser38Arg) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 8, 2022
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:
RCV001984865.5

Allele description

NM_002230.4(JUP):c.114C>A (p.Ser38Arg)

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.114C>A (p.Ser38Arg)
HGVS:
  • NC_000017.11:g.41771741G>T
  • NG_009090.2:g.19972C>A
  • NM_001352773.2:c.114C>A
  • NM_001352774.2:c.114C>A
  • NM_001352775.2:c.114C>A
  • NM_001352776.2:c.114C>A
  • NM_001352777.2:c.114C>A
  • NM_002230.4:c.114C>AMANE SELECT
  • NM_021991.4:c.114C>A
  • NP_001339702.1:p.Ser38Arg
  • NP_001339703.1:p.Ser38Arg
  • NP_001339704.1:p.Ser38Arg
  • NP_001339705.1:p.Ser38Arg
  • NP_001339706.1:p.Ser38Arg
  • NP_002221.1:p.Ser38Arg
  • NP_068831.1:p.Ser38Arg
  • LRG_401:g.19972C>A
  • NC_000017.10:g.39927993G>T
Protein change:
S38R
Links:
dbSNP: rs782391511
NCBI 1000 Genomes Browser:
rs782391511
Molecular consequence:
  • NM_001352773.2:c.114C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352774.2:c.114C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352775.2:c.114C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352776.2:c.114C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352777.2:c.114C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002230.4:c.114C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021991.4:c.114C>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002207571Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Mar 8, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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, SCV002207571.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant is present in population databases (rs782391511, gnomAD 0.006%). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 38 of the JUP protein (p.Ser38Arg). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated.

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

Last Updated: Feb 28, 2024