NM_005902.4(SMAD3):c.313del (p.Ala105fs) AND Aneurysm-osteoarthritis syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 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:: RCV000023248.4

Allele description [Variation Report for NM_005902.4(SMAD3):c.313del (p.Ala105fs)]

NM_005902.4(SMAD3):c.313del (p.Ala105fs)

Gene:

SMAD3:SMAD family member 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q22.33

Genomic location:

Preferred name:

NM_005902.4(SMAD3):c.313del (p.Ala105fs)

HGVS:

NC_000015.10:g.67165001del
NG_011990.1:g.104145del
NM_001145102.2:c.-3del
NM_001145103.2:c.181del
NM_005902.4:c.313delMANE SELECT
NP_001138575.1:p.Ala61fs
NP_005893.1:p.Ala105fs
NC_000015.10:g.67165001delG
NC_000015.9:g.67457339del
NM_005902.3:c.313del

Protein change:

A105fs

Links:

OMIM: 603109.0008; dbSNP: rs587776882

NCBI 1000 Genomes Browser:

rs587776882

Molecular consequence:

NM_001145102.2:c.-3del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001145103.2:c.181del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_005902.4:c.313del - frameshift variant - [Sequence Ontology: SO:0001589]

Functional consequence:

effect on translation [Variation Ontology: 0399]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000044539	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 2012)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000044539

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 2012)

germline

literature only

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	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.

van de Laar IM, van der Linde D, Oei EH, Bos PK, Bessems JH, Bierma-Zeinstra SM, van Meer BL, Pals G, Oldenburg RA, Bekkers JA, Moelker A, de Graaf BM, Matyas G, Frohn-Mulder IM, Timmermans J, Hilhorst-Hofstee Y, Cobben JM, Bruggenwirth HT, van Laer L, Loeys B, De Backer J, Coucke PJ, et al.

J Med Genet. 2012 Jan;49(1):47-57. doi: 10.1136/jmedgenet-2011-100382.

PubMed [citation]

PMID:: 22167769

Details of each submission

From OMIM, SCV000044539.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a patient with aneurysms-osteoarthritis syndrome (LCS3; 613795), van de Laar et al. (2012) identified a 1-bp deletion at nucleotide 313 of the SMAD3 gene (313delG), resulting in a frameshift (Ala105ProfsTer11).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 5, 2022

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