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NM_005359.6(SMAD4):c.1140-2del AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 28, 2024
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:
RCV004561261.1

Allele description [Variation Report for NM_005359.6(SMAD4):c.1140-2del]

NM_005359.6(SMAD4):c.1140-2del

Gene:
SMAD4:SMAD family member 4 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
18q21.2
Genomic location:
Preferred name:
NM_005359.6(SMAD4):c.1140-2del
HGVS:
  • NC_000018.10:g.51067017del
  • NG_013013.2:g.103978del
  • NM_001407041.1:c.1140-2del
  • NM_001407042.1:c.1140-2del
  • NM_005359.6:c.1140-2delMANE SELECT
  • LRG_318t1:c.1140-2del
  • LRG_318:g.103978del
  • NC_000018.9:g.48593387del
  • NM_005359.5:c.1140-2delA
Molecular consequence:
  • NM_001407041.1:c.1140-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407042.1:c.1140-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_005359.6:c.1140-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV005048105Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 28, 2024) 		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, SCV005048105.1

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

Description

The c.1140-2delA intronic variant is located 2 nucleotide(s) before coding exon 9 in the SMAD4 gene. This variant results from a deletion of 1 nucleotide at positions c.1140-2. This variant does not change the sequence of the canonical acceptor at this splice site. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on the available evidence, 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