NM_005359.6(SMAD4):c.1168G>A (p.Glu390Lys) AND Generalized juvenile polyposis/juvenile polyposis coli

delete

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 4, 2012
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000021724.2

Allele description

NM_005359.6(SMAD4):c.1168G>A (p.Glu390Lys)

Gene:

SMAD4:SMAD family member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q21.2

Genomic location:

Preferred name:

NM_005359.6(SMAD4):c.1168G>A (p.Glu390Lys)

HGVS:

NC_000018.10:g.51067047G>A
NG_013013.2:g.104008G>A
NM_005359.6:c.1168G>AMANE SELECT
NP_005350.1:p.Glu390Lys
NP_005350.1:p.Glu390Lys
LRG_318t1:c.1168G>A
LRG_318:g.104008G>A
LRG_318p1:p.Glu390Lys
NC_000018.9:g.48593417G>A
NM_005359.5:c.1168G>A

Protein change:

E390K

Links:

dbSNP: rs377767356

NCBI 1000 Genomes Browser:

rs377767356

Molecular consequence:

NM_005359.6:c.1168G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Generalized juvenile polyposis/juvenile polyposis coli (JPS)
Synonyms:: Polyposis juvenile intestinal; Polyposis familial of entire gastrointestinal tract; Juvenile polyposis coli
Identifiers:: MONDO: MONDO:0008276; MedGen: C1868081; Orphanet: 2929; Orphanet: 329971; OMIM: 174900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000042390	Research and Development, ARUP Laboratories	no assertion criteria provided	Pathogenic (Dec 4, 2012)	not provided	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

SCV000042390

Research and Development, ARUP Laboratories

no assertion criteria provided

Pathogenic
(Dec 4, 2012)

not provided

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

Citations

PubMed

Germline mutations of the dpc4 gene in Korean juvenile polyposis patients.

Kim IJ, Ku JL, Yoon KA, Heo SC, Jeong SY, Choi HS, Hong KH, Yang SK, Park JG.

Int J Cancer. 2000 May 15;86(4):529-32.

PubMed [citation]

PMID:: 10797267

Details of each submission

From Research and Development, ARUP Laboratories, SCV000042390.1

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

Description

Converted during submission to Pathogenic.

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

Last Updated: Sep 29, 2021

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