• delete

NM_005902.4(SMAD3):c.802C>T (p.Arg268Cys) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Feb 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000235212.1

Allele description

NM_005902.4(SMAD3):c.802C>T (p.Arg268Cys)

Gene:
SMAD3:SMAD family member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q22.33
Genomic location:
Preferred name:
NM_005902.4(SMAD3):c.802C>T (p.Arg268Cys)
Other names:
p.R268C:CGC>TGC
HGVS:
  • NC_000015.10:g.67181384C>T
  • NG_011990.1:g.120528C>T
  • NM_001145102.1:c.487C>T
  • NM_001145103.1:c.670C>T
  • NM_001145104.1:c.217C>T
  • NM_005902.4:c.802C>TMANE SELECT
  • NP_001138574.1:p.Arg163Cys
  • NP_001138575.1:p.Arg224Cys
  • NP_001138576.1:p.Arg73Cys
  • NP_005893.1:p.Arg268Cys
  • NC_000015.9:g.67473722C>T
  • NM_005902.3:c.802C>T
Protein change:
R163C
Links:
dbSNP: rs794727798
NCBI 1000 Genomes Browser:
rs794727798
Molecular consequence:
  • NM_001145102.1:c.487C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145103.1:c.670C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145104.1:c.217C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005902.4:c.802C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000250758GeneDxcriteria provided, single submitter
Uncertain significance
(Feb 28, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000250758.12

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

Description

R268C was reported as a variant of uncertain significance in at least one individual tested for TAAD-related disorders in an external database (Landrum et al., 2014). The R268C variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R268C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Additionally, missense variants in nearby residues (F248L, T261I, P263L) have been reported in HGMD in association with TAAD-related disorders (Stenson et al., 2014). Lastly, functional studies conducted by Stroschein et al. (1999), showed that R268C decreased the binding activity and the ability of R268C to mediate transcription activation of the TGFß-signaling pathway.

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

Last Updated: Aug 25, 2021

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