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NM_005902.4(SMAD3):c.*1105G>A

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000316892.1
Variation ID:
316892
Description:
single nucleotide variant
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NM_005902.4(SMAD3):c.*1105G>A

Allele ID
339754
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q22.33
Genomic location
15: 67191641 (GRCh38) GRCh38 UCSC
15: 67483979 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.67191641G>A
NC_000015.9:g.67483979G>A
NM_001145102.1:c.*1105G>A 3 prime UTR
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.25339 (A)

Allele frequency
1000 Genomes Project 0.25339
The Genome Aggregation Database (gnomAD) 0.18744
Trans-Omics for Precision Medicine (TOPMed) 0.20767
Links
ClinGen: CA10646507
dbSNP: rs8031440
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000295074.1
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000333818.1
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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
431 447

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Loeys-Dietz Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000393558.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Thoracic Aortic Aneurysms and Aortic Dissections
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000393557.2
Submitted: (Oct 18, 2016)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 27, 2019