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NM_005359.6(SMAD4):c.1096C>T (p.Gln366Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 20, 2016
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:
RCV002318518.9

Allele description [Variation Report for NM_005359.6(SMAD4):c.1096C>T (p.Gln366Ter)]

NM_005359.6(SMAD4):c.1096C>T (p.Gln366Ter)

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.1096C>T (p.Gln366Ter)
HGVS:
  • NC_000018.10:g.51065563C>T
  • NG_013013.2:g.102524C>T
  • NM_005359.6:c.1096C>TMANE SELECT
  • NP_005350.1:p.Gln366Ter
  • NP_005350.1:p.Gln366Ter
  • LRG_318t1:c.1096C>T
  • LRG_318:g.102524C>T
  • LRG_318p1:p.Gln366Ter
  • NC_000018.9:g.48591933C>T
  • NM_005359.5:c.1096C>T
Protein change:
Q366*
Links:
dbSNP: rs1060500733
NCBI 1000 Genomes Browser:
rs1060500733
Molecular consequence:
  • NM_005359.6:c.1096C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Familial thoracic aortic aneurysm and aortic dissection (TAAD)
Synonyms:
Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
Identifiers:
MONDO: MONDO:0019625; MedGen: C4707243; Orphanet: 91387; OMIM: PS607086
Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000676265Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jan 20, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV000676265.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.Q366* pathogenic mutation (also known as c.1096C>T), located in coding exon 8 of the SMAD4 gene, results from a C to T substitution at nucleotide position 1096. This changes the amino acid from a glutamine to a stop codon within coding exon 8. This mutation has been reported in an individual diagnosed with juvenile polyposis syndrome and/or hereditary hemorrhagic telangiectasia (Wain et al. Genet. Med. 2014;16(8):588-93). In addition to the clinical data presented in the literature, since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024