NM_005359.6(SMAD4):c.1587dup (p.His530fs) AND Generalized juvenile polyposis/juvenile polyposis coli

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:: RCV000021748.1

Allele description

NM_005359.6(SMAD4):c.1587dup (p.His530fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

18q21.2

Genomic location:

Preferred name:

NM_005359.6(SMAD4):c.1587dup (p.His530fs)

HGVS:

NC_000018.10:g.51078395dup
NG_013013.2:g.115356dup
NM_005359.6:c.1587dupMANE SELECT
NP_005350.1:p.His530fs
LRG_318:g.115356dup
NC_000018.9:g.48604764_48604765insA
NC_000018.9:g.48604765dup
NM_005359.5:c.1586dupA

Protein change:

H530fs

Links:

dbSNP: rs377767376

NCBI 1000 Genomes Browser:

rs377767376

Molecular consequence:

NM_005359.6:c.1587dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000042414	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

SCV000042414

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

Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis.

van Hattem WA, Brosens LA, de Leng WW, Morsink FH, Lens S, Carvalho R, Giardiello FM, Offerhaus GJ.

Gut. 2008 May;57(5):623-7. doi: 10.1136/gut.2007.142927. Epub 2008 Jan 4.

PubMed [citation]

PMID:: 18178612

Details of each submission

From Research and Development, ARUP Laboratories, SCV000042414.1

#	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: May 14, 2021

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