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NM_005359.6(SMAD4):c.1540_1541delinsTT (p.Pro514Leu) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 29, 2020
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:
RCV002400294.2

Allele description [Variation Report for NM_005359.6(SMAD4):c.1540_1541delinsTT (p.Pro514Leu)]

NM_005359.6(SMAD4):c.1540_1541delinsTT (p.Pro514Leu)

Gene:
SMAD4:SMAD family member 4 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
18q21.2
Genomic location:
Preferred name:
NM_005359.6(SMAD4):c.1540_1541delinsTT (p.Pro514Leu)
HGVS:
  • NC_000018.10:g.51078348_51078349delinsTT
  • NG_013013.2:g.115309_115310delinsTT
  • NM_005359.6:c.1540_1541delinsTTMANE SELECT
  • NP_005350.1:p.Pro514Leu
  • LRG_318t1:c.1540_1541delinsTT
  • LRG_318:g.115309_115310delinsTT
  • NC_000018.9:g.48604718_48604719delinsTT
  • NM_005359.5:c.1540_1541delCCinsTT
  • NM_005359.5:c.1540_1541delinsTT
Protein change:
P514L
Links:
dbSNP: rs1910522327
NCBI 1000 Genomes Browser:
rs1910522327
Molecular consequence:
  • NM_005359.6:c.1540_1541delinsTT - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002706247Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 29, 2020) 		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, SCV002706247.2

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

Description

The c.1540_1541delCCinsTT variant, located in coding exon 11 of the SMAD4 gene, results from an in-frame deletion of CC and insertion of TT at nucleotide positions 1540 to 1541. This results in the substitution of the proline residue for a leucine residue at codon 514, an amino acid with similar 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 (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). 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: Sep 29, 2024