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NM_005902.4(SMAD3):c.207-10G>A AND Aneurysm-osteoarthritis syndrome

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
Feb 5, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV003114445.7

Allele description [Variation Report for NM_005902.4(SMAD3):c.207-10G>A]

NM_005902.4(SMAD3):c.207-10G>A

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.207-10G>A
HGVS:
  • NC_000015.10:g.67164885G>A
  • NG_011990.1:g.104029G>A
  • NM_001145102.2:c.-109-10G>A
  • NM_001145103.2:c.75-10G>A
  • NM_005902.4:c.207-10G>AMANE SELECT
  • NC_000015.9:g.67457223G>A
  • NM_005902.3:c.207-10G>A
Links:
dbSNP: rs201912204
NCBI 1000 Genomes Browser:
rs201912204
Molecular consequence:
  • NM_001145102.2:c.-109-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001145103.2:c.75-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005902.4:c.207-10G>A - intron variant - [Sequence Ontology: SO:0001627]
Observations:
110

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
SCV003799966ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)		Likely benign
(Mar 1, 2022) 		germlineclinical testing

Citation Link,

SCV004821014All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Feb 5, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown110not providednot provided108544not 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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV003799966.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From All of Us Research Program, National Institutes of Health, SCV004821014.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided110not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided110not providednot providednot provided

Last Updated: Sep 29, 2024