NM_005359.6(SMAD4):c.70A>G (p.Met24Val) AND Heritable Thoracic Aortic Disease

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 1, 2018
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:: RCV000678042.1

Allele description [Variation Report for NM_005359.6(SMAD4):c.70A>G (p.Met24Val)]

NM_005359.6(SMAD4):c.70A>G (p.Met24Val)

Gene:

SMAD4:SMAD family member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q21.2

Genomic location:

Preferred name:

NM_005359.6(SMAD4):c.70A>G (p.Met24Val)

HGVS:

NC_000018.10:g.51047116A>G
NG_013013.2:g.84077A>G
NM_005359.6:c.70A>GMANE SELECT
NP_005350.1:p.Met24Val
NP_005350.1:p.Met24Val
LRG_318t1:c.70A>G
LRG_318:g.84077A>G
LRG_318p1:p.Met24Val
NC_000018.9:g.48573486A>G
NM_005359.5:c.70A>G

Protein change:

M24V

Links:

dbSNP: rs876659391

NCBI 1000 Genomes Browser:

rs876659391

Molecular consequence:

NM_005359.6:c.70A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Heritable Thoracic Aortic Disease
Identifiers:: MedGen: CN868256

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000804196	Department of Internal Medicine, The University of Texas McGovern Medical School, The University of Texas Health Science Center at Houston	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 1, 2018)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000804196

Department of Internal Medicine, The University of Texas McGovern Medical School, The University of Texas Health Science Center at Houston

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 1, 2018)

germline

research

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
European American	germline	yes	1	not provided	not provided	not provided	not provided	research

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 Department of Internal Medicine, The University of Texas McGovern Medical School, The University of Texas Health Science Center at Houston, SCV000804196.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	European American	1	not provided	not provided	research	PubMed (1)

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

Last Updated: Jun 17, 2024

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