NM_005359.5(SMAD4):c.424+1G>A AND Juvenile polyposis syndrome

Clinical significance:Pathogenic (Last evaluated: Dec 4, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000032041.1

Allele description [Variation Report for NM_005359.5(SMAD4):c.424+1G>A]

NM_005359.5(SMAD4):c.424+1G>A

Gene:
SMAD4:SMAD family member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q21.2
Genomic location:
Preferred name:
NM_005359.5(SMAD4):c.424+1G>A
HGVS:
  • NC_000018.10:g.51048861G>A
  • NG_013013.2:g.85822G>A
  • NM_005359.5:c.424+1G>A
  • LRG_318t1:c.424+1G>A
  • LRG_318:g.85822G>A
  • NC_000018.9:g.48575231G>A
Links:
dbSNP: 377767386
NCBI 1000 Genomes Browser:
rs377767386
Molecular consequence:
  • NM_005359.5:c.424+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Juvenile polyposis syndrome (JPS)
Identifiers:
MedGen: C0345893; Orphanet: 2929; OMIM: 174900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000055528ARUP Institute,ARUP Laboratoriesno assertion criteria providedPathogenic
(Dec 4, 2012)
not providedclinical testing

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

Description

This mutation is predicted to abrogate the correct splicing of exons 2 and 3 of SMAD4 (although no mRNA was available to determine the precise effects)

SCV000055528

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers.

Woodford-Richens KL, Rowan AJ, Poulsom R, Bevan S, Salovaara R, Aaltonen LA, Houlston RS, Wright NA, Tomlinson IP.

Am J Pathol. 2001 Oct;159(4):1293-300.

PubMed [citation]
PMID:
11583957
PMCID:
PMC1850516

Details of each submission

From ARUP Institute,ARUP Laboratories, SCV000055528.1

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

Description

Converted during submission to pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 22, 2017