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NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) AND Thoracic aortic aneurysm

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 23, 2022
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:
RCV003148653.9

Allele description [Variation Report for NM_005902.4(SMAD3):c.508A>G (p.Ile170Val)]

NM_005902.4(SMAD3):c.508A>G (p.Ile170Val)

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.508A>G (p.Ile170Val)
Other names:
p.I170V:ATC>GTC
HGVS:
  • NC_000015.10:g.67165360A>G
  • NG_011990.1:g.104504A>G
  • NM_001145102.2:c.193A>G
  • NM_001145103.2:c.376A>G
  • NM_005902.4:c.508A>GMANE SELECT
  • NP_001138574.1:p.Ile65Val
  • NP_001138575.1:p.Ile126Val
  • NP_005893.1:p.Ile170Val
  • NC_000015.9:g.67457698A>G
  • NM_005902.3:c.508A>G
  • P84022:p.Ile170Val
Protein change:
I126V
Links:
UniProtKB: P84022#VAR_052021; dbSNP: rs35874463
NCBI 1000 Genomes Browser:
rs35874463
Molecular consequence:
  • NM_001145102.2:c.193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145103.2:c.376A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005902.4:c.508A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Thoracic aortic aneurysm
Synonyms:
Aneurysm of thoracic aorta
Identifiers:
MONDO: MONDO:0005396; MedGen: C0162872; Human Phenotype Ontology: HP:0012727

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003836802Cohesion Phenomics
no assertion criteria provided

(ACMG Guidelines, 2015)		Benign
(Sep 23, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot 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 Cohesion Phenomics, SCV003836802.1

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

Last Updated: Nov 3, 2024