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NM_000548.5(TSC2):c.3284+1G>T

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Interpretation:
other​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Aug 18, 2016)
Last evaluated:
May 1, 2016
Accession:
VCV000438793.1
Variation ID:
438793
Description:
single nucleotide variant
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NM_000548.5(TSC2):c.3284+1G>T

Allele ID
432422
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 2079429 (GRCh38) GRCh38 UCSC
16: 2129430 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.2079429G>T
NC_000016.9:g.2129430G>T
NM_001114382.2:c.3284+1G>T splice donor
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA394286328
dbSNP: rs45517289
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
other 1 no assertion criteria provided May 1, 2016 RCV000505679.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TSC2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
4579 4669

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
other
2: Mutations in members of targetable cancer pathways, gene families, or functional groups, regardless of tumor type;
(May 01, 2016)
no assertion criteria provided
Method: clinical testing
NEUROBLASTOMA
SOMATIC:c3270_neuroblastoma
(Somatic mutation)
Allele origin: somatic
Donald Williams Parsons Laboratory,Baylor College of Medicine
Additional submitter:
Donald Williams Parsons Laboratory,Baylor College of Medicine
Study: CSER-BASIC3
Accession: SCV000599960.1
Submitted: (Aug 18, 2016)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors. Parsons DW JAMA oncology 2016 PMID: 26822237

Record last updated Nov 01, 2019