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NM_000368.4(TSC1):c.*2708G>C

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000365438.1
Variation ID:
365438
Description:
single nucleotide variant
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NM_000368.4(TSC1):c.*2708G>C

Allele ID
307248
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.13
Genomic location
9: 132893527 (GRCh38) GRCh38 UCSC
9: 135768914 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.135768914C>G
NC_000009.12:g.132893527C>G
NM_001162426.2:c.*2708G>C 3 prime UTR
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00359 (G)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00277
1000 Genomes Project 0.00359
The Genome Aggregation Database (gnomAD) 0.00271
Links
ClinGen: CA10626686
dbSNP: rs150433809
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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 RCV000314526.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000366771.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TSC1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1871 1909

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
Tuberous Sclerosis
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000478018.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Focal Cortical Dysplasia of Taylor
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000478017.2
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