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NM_005902.4(SMAD3):c.284C>T (p.Pro95Leu) AND Aneurysm-osteoarthritis syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 8, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001285334.8

Allele description [Variation Report for NM_005902.4(SMAD3):c.284C>T (p.Pro95Leu)]

NM_005902.4(SMAD3):c.284C>T (p.Pro95Leu)

Gene:
SMAD3:SMAD family member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q22.33
Genomic location:
Preferred name:
NM_005902.4(SMAD3):c.284C>T (p.Pro95Leu)
HGVS:
  • NC_000015.10:g.67164972C>T
  • NG_011990.1:g.104116C>T
  • NM_001145102.2:c.-32C>T
  • NM_001145103.2:c.152C>T
  • NM_005902.4:c.284C>TMANE SELECT
  • NP_001138575.1:p.Pro51Leu
  • NP_005893.1:p.Pro95Leu
  • NC_000015.9:g.67457310C>T
Protein change:
P51L
Links:
dbSNP: rs1962536528
NCBI 1000 Genomes Browser:
rs1962536528
Molecular consequence:
  • NM_001145102.2:c.-32C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001145103.2:c.152C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005902.4:c.284C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Aneurysm-osteoarthritis syndrome
Synonyms:
ANEURYSMS-OSTEOARTHRITIS SYNDROME; LOEYS-DIETZ SYNDROME WITH OSTEOARTHRITIS; Loeys-Dietz syndrome 3; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0013426; MedGen: C3151087; Orphanet: 284984; OMIM: 613795

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001471748ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Uncertain significance
(Aug 8, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001471748.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The SMAD3 c.284C>T; p.Pro95Leu variant is reported in the literature in an individual affected with aortic dissection (Wooderchak-Donahue 2015). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The proline at codon 95 is highly conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, due to limited information, the clinical significance of the p.Pro95Leu variant is uncertain at this time. References: Wooderchak-Donahue W et al. Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy. Am J Med Genet A. 2015;167A(8):1747-1757.

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

Last Updated: Sep 1, 2024