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NM_000368.5(TSC1):c.915G>C (p.Gly305=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Sep 30, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000237732.9
Variation ID:
237732
Description:
single nucleotide variant
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NM_000368.5(TSC1):c.915G>C (p.Gly305=)

Allele ID
240498
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.13
Genomic location
9: 132911567 (GRCh38) GRCh38 UCSC
9: 135786954 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_486:g.38067G>C
LRG_486t1:c.915G>C LRG_486p1:p.Gly305=
NC_000009.12:g.132911567C>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:132911566:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00069
1000 Genomes Project 0.00040
Trans-Omics for Precision Medicine (TOPMed) 0.00045
Links
ClinGen: CA039696
dbSNP: rs397515293
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Jul 26, 2018 RCV000713911.5
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 4, 2020 RCV001083498.3
Likely benign 1 criteria provided, single submitter - RCV000242646.3
Likely benign 1 criteria provided, single submitter Apr 27, 2017 RCV000368800.2
Likely benign 1 criteria provided, single submitter Nov 9, 2016 RCV000563469.1
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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
2812 2856

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000303876.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Tuberous sclerosis 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000478249.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Focal cortical dysplasia type II
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000478250.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Tuberous sclerosis 1
Allele origin: germline
Invitae
Accession: SCV000284746.7
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jul 26, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000517267.5
Submitted: (Sep 30, 2021)
Evidence details
Benign
(May 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000844555.1
Submitted: (Aug 31, 2018)
Evidence details
Likely benign
(Nov 09, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000675350.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Subpopulation frequency in support of benign classification;Synonymous alterations with insufficient evidence to classify as benign

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 rs397515293...

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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 20, 2021