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NM_005359.6(SMAD4):c.*4867dup

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000327168.2
Variation ID:
327168
Description:
1bp duplication
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NM_005359.6(SMAD4):c.*4867dup

Allele ID
331658
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
18q21.2
Genomic location
18: 51083333-51083334 (GRCh38) GRCh38 UCSC
18: 48609703-48609704 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_318:g.120295dup
NM_005359.5:c.*4867dupT
NC_000018.10:g.51083334dup
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000018.10:51083333:T:TT
Functional consequence
-
Global minor allele frequency (GMAF)
0.00379 (TT)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00214
Trans-Omics for Precision Medicine (TOPMed) 0.00327
The Genome Aggregation Database (gnomAD) 0.00286
Trans-Omics for Precision Medicine (TOPMed) 0.00288
1000 Genomes Project 0.00379
Links
ClinGen: CA10641677
dbSNP: rs571773833
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000297466.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000360337.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000390197.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SMAD4 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1315 1356

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary Hemorrhagic Telangiectasia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000409279.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Myhre Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000409280.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Juvenile Polyposis
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000409281.2
Submitted: (Oct 18, 2016)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs571773833...

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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 Nov 27, 2021