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NM_005359.6(SMAD4):c.533C>G (p.Ser178Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 25, 2015
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:
RCV002310632.9

Allele description [Variation Report for NM_005359.6(SMAD4):c.533C>G (p.Ser178Ter)]

NM_005359.6(SMAD4):c.533C>G (p.Ser178Ter)

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.533C>G (p.Ser178Ter)
HGVS:
  • NC_000018.10:g.51054859C>G
  • NG_013013.2:g.91820C>G
  • NM_005359.6:c.533C>GMANE SELECT
  • NP_005350.1:p.Ser178Ter
  • NP_005350.1:p.Ser178Ter
  • LRG_318t1:c.533C>G
  • LRG_318:g.91820C>G
  • LRG_318p1:p.Ser178Ter
  • NC_000018.9:g.48581229C>G
  • NM_005359.5:c.533C>G
Protein change:
S178*
Links:
dbSNP: rs377767331
NCBI 1000 Genomes Browser:
rs377767331
Molecular consequence:
  • NM_005359.6:c.533C>G - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000274814Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Mar 25, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000274814.7

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

Description

The p.S178* pathogenic mutation (also known as c.533C>G), located in coding exon 4 of the SMAD4 gene, results from a C to G substitution at nucleotide position 533. This changes the amino acid from a serine to a stop codon within coding exon 4. This alteration has been previously identified in an individual meeting diagnostic criteria for juvenile polyposis syndrome (JPS) (Roth S et al. Genes Chromosomes Cancer. 1999 Sep;26:54-61). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Nov 3, 2024