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

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 25, 2021)
Last evaluated:
May 19, 2021
Accession:
VCV000198187.4
Variation ID:
198187
Description:
single nucleotide variant
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NM_005902.4(SMAD3):c.802C>T (p.Arg268Cys)

Allele ID
195348
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q22.33
Genomic location
15: 67181384 (GRCh38) GRCh38 UCSC
15: 67473722 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.67181384C>T
NC_000015.9:g.67473722C>T
NG_011990.1:g.120528C>T
... more HGVS
Protein change
R268C, R73C, R224C, R163C
Other names
p.R268C:CGC>TGC
Canonical SPDI
NC_000015.10:67181383:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA020119
dbSNP: rs794727798
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 4 criteria provided, multiple submitters, no conflicts May 19, 2021 RCV000179456.7
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SMAD3 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
667 687

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 27, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000231708.5
Submitted: (Sep 19, 2018)
Evidence details
Publications
PubMed (4)
Other databases
http://www.egl-eurofins.com/emvc…
Likely pathogenic
(May 19, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000250758.12
Submitted: (Sep 25, 2021)
Evidence details
Comment:
Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; … (more)
Likely pathogenic
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV001808492.1
Submitted: (Aug 24, 2021)
Evidence details
Likely pathogenic
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001964192.1
Submitted: (Sep 21, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy. Wooderchak-Donahue W American journal of medical genetics. Part A 2015 PMID: 25944730
SMAD2, SMAD3 and SMAD4 mutations in colorectal cancer. Fleming NI Cancer research 2013 PMID: 23139211
Mutations in protein-binding hot-spots on the hub protein Smad3 differentially affect its protein interactions and Smad3-regulated gene expression. Schiro MM PloS one 2011 PMID: 21949838
Cooperative binding of Smad proteins to two adjacent DNA elements in the plasminogen activator inhibitor-1 promoter mediates transforming growth factor beta-induced smad-dependent transcriptional activation. Stroschein SL The Journal of biological chemistry 1999 PMID: 10092624
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SMAD3 - - - -

Text-mined citations for rs794727798...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021