NM_005902.3(SMAD3):c.335C>T (p.Ala112Val) AND Loeys-Dietz syndrome type 3

Clinical significance:Pathogenic (Last evaluated: Apr 22, 2014)

Review status:(1/4)1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000023247.2

Allele description [Variation Report for NM_005902.3(SMAD3):c.335C>T (p.Ala112Val)]

Gene:
SMAD3:SMAD family member 3 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
15q22.33
Genomic location:
Preferred name:
NM_005902.3(SMAD3):c.335C>T (p.Ala112Val)
HGVS:
  • NC_000015.10:g.67165023C>T
  • NG_011990.1:g.104167C>T
  • NM_005902.3:c.335C>T
  • NP_005893.1:p.Ala112Val
  • NC_000015.9:g.67457361C>T
Protein change:
A112V; ALA112VAL
Links:
OMIM: 603109.0007; dbSNP: 387906854
NCBI 1000 Genomes Browser:
rs387906854
Molecular consequence:
  • NM_001145104.1:c.-1224C>T - 2KB upstream variant - [Sequence Ontology: SO:0001636]
  • NM_005902.3:c.335C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Loeys-Dietz syndrome type 3 (LDS3)
Synonyms:
ANEURYSMS-OSTEOARTHRITIS SYNDROME; LOEYS-DIETZ SYNDROME WITH OSTEOARTHRITIS; Loeys-Dietz syndrome type 1C; See all synonyms [MedGen]
Identifiers:
MedGen: C3151087; OMIM: 613795; Orphanet: 284984
Age of onset:
Variable
Prevalence:
<1 / 1 000 000 284984

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000044538OMIMPathogenic
(Apr 22, 2014)
germlineliterature only

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

Guo, D.-C. Personal Communication. 2012. Houston, Tx

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms.

Regalado ES, Guo DC, Villamizar C, Avidan N, Gilchrist D, McGillivray B, Clarke L, Bernier F, Santos-Cortez RL, Leal SM, Bertoli-Avella AM, Shendure J, Rieder MJ, Nickerson DA; NHLBI GO Exome Sequencing Project, Milewicz DM.

Circ Res. 2011 Sep 2;109(6):680-6. doi: 10.1161/CIRCRESAHA.111.248161. Epub 2011 Jul 21.

PubMed [citation]
PMID:
21778426
PMCID:
PMC4115811

Details of each submission

From OMIM, SCV000044538.2

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a family segregating autosomal dominant thoracic aortic aneurysm with dissection as well as other features of Loeys-Dietz syndrome (LDS3; 613795) including bifid uvula and scoliosis, and early-onset osteoarthritis, Regalado et al. (2011) identified a heterozygous alanine-to-valine substitution at codon 112 (A112V). The mutation segregated with disease with reduced penetrance in this family and was not identified in 2,300 control exomes. Guo (2012) stated that the correct nucleotide change for the A112V mutation is 335C-T in exon 2 rather than 235C-T as cited in Regalado et al. (2011).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2014

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