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NM_005902.4(SMAD3):c.874del (p.Arg292fs) AND Aneurysm-osteoarthritis syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 19, 2019
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:
RCV000993703.2

Allele description [Variation Report for NM_005902.4(SMAD3):c.874del (p.Arg292fs)]

NM_005902.4(SMAD3):c.874del (p.Arg292fs)

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.874del (p.Arg292fs)
HGVS:
  • NC_000015.10:g.67184729del
  • NG_011990.1:g.123873del
  • NM_001145102.2:c.559del
  • NM_001145103.2:c.742del
  • NM_001145104.2:c.289del
  • NM_005902.4:c.874delMANE SELECT
  • NP_001138574.1:p.Arg187fs
  • NP_001138575.1:p.Arg248fs
  • NP_001138576.1:p.Arg97fs
  • NP_005893.1:p.Arg292fs
  • NC_000015.9:g.67477067del
  • NM_005902.3:c.874del
Protein change:
R187fs
Links:
dbSNP: rs1595960347
NCBI 1000 Genomes Browser:
rs1595960347
Molecular consequence:
  • NM_001145102.2:c.559del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001145103.2:c.742del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001145104.2:c.289del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005902.4:c.874del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
2

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000998917Genetics Department, University Hospital of Toulouse
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 19, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genetics Department, University Hospital of Toulouse, SCV000998917.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Nov 5, 2022