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NM_005359.6(SMAD4):c.1151G>T (p.Gly384Val) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 10, 2023
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:
RCV004561262.1

Allele description [Variation Report for NM_005359.6(SMAD4):c.1151G>T (p.Gly384Val)]

NM_005359.6(SMAD4):c.1151G>T (p.Gly384Val)

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.1151G>T (p.Gly384Val)
HGVS:
  • NC_000018.10:g.51067030G>T
  • NG_013013.2:g.103991G>T
  • NM_001407041.1:c.1151G>T
  • NM_001407042.1:c.1151G>T
  • NM_005359.6:c.1151G>TMANE SELECT
  • NP_001393970.1:p.Gly384Val
  • NP_001393971.1:p.Gly384Val
  • NP_005350.1:p.Gly384Val
  • NP_005350.1:p.Gly384Val
  • LRG_318t1:c.1151G>T
  • LRG_318:g.103991G>T
  • LRG_318p1:p.Gly384Val
  • NC_000018.9:g.48593400G>T
  • NM_005359.5:c.1151G>T
  • NR_176265.1:n.1689G>T
Protein change:
G384V
Molecular consequence:
  • NM_001407041.1:c.1151G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407042.1:c.1151G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005359.6:c.1151G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_176265.1:n.1689G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV005048107Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 10, 2023) 		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, SCV005048107.1

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

Description

The p.G384V variant (also known as c.1151G>T), located in coding exon 9 of the SMAD4 gene, results from a G to T substitution at nucleotide position 1151. The glycine at codon 384 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Jun 9, 2024