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NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg) AND Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 13, 2004
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:
RCV000009075.11

Allele description [Variation Report for NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg)]

NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg)

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.1054G>A (p.Gly352Arg)
HGVS:
  • NC_000018.10:g.51065521G>A
  • NG_013013.2:g.102482G>A
  • NM_005359.6:c.1054G>AMANE SELECT
  • NP_005350.1:p.Gly352Arg
  • NP_005350.1:p.Gly352Arg
  • LRG_318t1:c.1054G>A
  • LRG_318:g.102482G>A
  • LRG_318p1:p.Gly352Arg
  • NC_000018.9:g.48591891G>A
  • NM_005359.5:c.1054G>A
  • Q13485:p.Gly352Arg
Protein change:
G352R; GLY352ARG
Links:
UniProtKB: Q13485#VAR_019571; UniProtKB/Swiss-Prot: VAR_019571; OMIM: 600993.0011; dbSNP: rs121912581
NCBI 1000 Genomes Browser:
rs121912581
Molecular consequence:
  • NM_005359.6:c.1054G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JPHT)
Synonyms:
JP/HHT SYNDROME; JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA; POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008278; MedGen: C1832942; Orphanet: 2929; OMIM: 175050

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000029292OMIM
no assertion criteria provided
Pathogenic
(Mar 13, 2004) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

Gallione CJ, Repetto GM, Legius E, Rustgi AK, Schelley SL, Tejpar S, Mitchell G, Drouin E, Westermann CJ, Marchuk DA.

Lancet. 2004 Mar 13;363(9412):852-9.

PubMed [citation]
PMID:
15031030

Details of each submission

From OMIM, SCV000029292.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a family in which members of 3 successive generations had the JP/HHT syndrome (JPHT; 175050), Gallione et al. (2004) found a 1054G-A transition in the MADH4 gene predicted to result in a gly352-to-arg change (G352R). Juvenile polyps were present in the colon in 1 member of each of 3 successive generations with a diagnosis at 9 years, 5 years, and 3 years. Arteriovenous malformations were present in the lung and in the liver. Cerebral capillary telangiectases and pancytopenia occurred in the first generation, and an episode of intracranial bleeding in the second.

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

Last Updated: Oct 26, 2024