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NM_005359.6(SMAD4):c.55A>G (p.Ile19Val) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 4, 2022
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:
RCV002343631.2

Allele description [Variation Report for NM_005359.6(SMAD4):c.55A>G (p.Ile19Val)]

NM_005359.6(SMAD4):c.55A>G (p.Ile19Val)

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.55A>G (p.Ile19Val)
HGVS:
  • NC_000018.10:g.51047101A>G
  • NG_013013.2:g.84062A>G
  • NM_005359.6:c.55A>GMANE SELECT
  • NP_005350.1:p.Ile19Val
  • NP_005350.1:p.Ile19Val
  • LRG_318t1:c.55A>G
  • LRG_318:g.84062A>G
  • LRG_318p1:p.Ile19Val
  • NC_000018.9:g.48573471A>G
  • NM_005359.5:c.55A>G
Protein change:
I19V
Links:
dbSNP: rs1568202964
NCBI 1000 Genomes Browser:
rs1568202964
Molecular consequence:
  • NM_005359.6:c.55A>G - 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
SCV002648860Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 4, 2022) 		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, SCV002648860.2

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

Description

The p.I19V variant (also known as c.55A>G), located in coding exon 1 of the SMAD4 gene, results from an A to G substitution at nucleotide position 55. The isoleucine at codon 19 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. 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