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NM_005359.6(SMAD4):c.10_11del (p.Met4fs) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 5, 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:
RCV004559126.1

Allele description [Variation Report for NM_005359.6(SMAD4):c.10_11del (p.Met4fs)]

NM_005359.6(SMAD4):c.10_11del (p.Met4fs)

Gene:
SMAD4:SMAD family member 4 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
18q21.2
Genomic location:
Preferred name:
NM_005359.6(SMAD4):c.10_11del (p.Met4fs)
HGVS:
  • NC_000018.10:g.51047054AT[1]
  • NG_013013.2:g.84015AT[1]
  • NM_005359.6:c.10_11delMANE SELECT
  • NP_005350.1:p.Met4fs
  • LRG_318:g.84015AT[1]
  • NC_000018.9:g.48573424AT[1]
  • NM_005359.5:c.10_11delAT
Protein change:
M4fs
Links:
dbSNP: rs1064796471
NCBI 1000 Genomes Browser:
rs1064796471
Molecular consequence:
  • NM_005359.6:c.10_11del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV005048094Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 5, 2023) 		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, SCV005048094.1

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

Description

The c.10_11delAT variant, located in coding exon 1 of the SMAD4 gene, results from a deletion of two nucleotides at nucleotide positions 10 to 11, causing a translational frameshift with a predicted alternate stop codon (p.M4Vfs*9). The predicted stop codon occurs in the 5’ end of theSMAD4 gene. Premature termination codons in the 5’ end of a gene have been reported to escape nonsense-mediated mRNAdecay and/or lead to re-initiation (Rivas et al. Science. 2015 May 8;348(6235):666-9; Lindeboom et al. Nat Genet. 2016 Oct;48(10):1112-8; Rhee et al. Sci Rep. 2017 May 10;7(1):1653). The exact functional effect of this alteration is unknown. 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