NM_002230.4(JUP):c.926A>G (p.Asn309Ser) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 30, 2013
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:: RCV000154727.4

Allele description [Variation Report for NM_002230.4(JUP):c.926A>G (p.Asn309Ser)]

NM_002230.4(JUP):c.926A>G (p.Asn309Ser)

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.926A>G (p.Asn309Ser)

HGVS:

NC_000017.11:g.41765051T>C
NG_009090.2:g.26662A>G
NM_001352773.2:c.926A>G
NM_001352774.2:c.926A>G
NM_001352775.2:c.926A>G
NM_001352776.2:c.926A>G
NM_001352777.2:c.926A>G
NM_002230.4:c.926A>GMANE SELECT
NM_021991.4:c.926A>G
NP_001339702.1:p.Asn309Ser
NP_001339703.1:p.Asn309Ser
NP_001339704.1:p.Asn309Ser
NP_001339705.1:p.Asn309Ser
NP_001339706.1:p.Asn309Ser
NP_002221.1:p.Asn309Ser
NP_068831.1:p.Asn309Ser
LRG_401t1:c.926A>G
LRG_401t2:c.926A>G
LRG_401:g.26662A>G
NC_000017.10:g.39921303T>C
NM_002230.2:c.926A>G
NM_021991.2:c.926A>G

Protein change:

N309S

Links:

dbSNP: rs140606359

Molecular consequence:

NM_001352773.2:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352774.2:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352775.2:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352776.2:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352777.2:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002230.4:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_021991.4:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000204407	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (May 30, 2013)	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

SCV000204407

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(May 30, 2013)

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	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000204407.4

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

Description

Variant classified as Uncertain Significance - Favor Benign. The Asn309Ser varia nt in JUP has not been reported in individuals with cardiomyopathy, but has been identified in 1/8600 European American chromosomes and 1/4406 African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS/; dbSNP rs140606359). Asparagine (Asn) at position 309 is not completely con served in evolutionarily distant species with several (medaka, zebrafish, lampre y, and fruitfly) carrying a serine (Ser; this variant) at this position, suggest ing that this change may be tolerated. Additional computational analyses (bioche mical amino acid properties, AlignGVGD, PolyPhen2, and SIFT) also suggest that t his variant may not impact the protein, though this information is not predictiv e enough to rule out pathogenicity. In summary, the presence of this variant in other species suggests that it is more likely benign, but additional information is needed to fully assess its clinical significance.

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

Last Updated: Apr 12, 2026

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