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NM_000368.4(TSC1):c.782A>G (p.Lys261Arg)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 14, 2019)
Last evaluated:
Mar 4, 2019
Accession:
VCV000237724.2
Variation ID:
237724
Description:
single nucleotide variant
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NM_000368.4(TSC1):c.782A>G (p.Lys261Arg)

Allele ID
240506
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.13
Genomic location
9: 132912413 (GRCh38) GRCh38 UCSC
9: 135787800 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.135787800T>C
NC_000009.12:g.132912413T>C
NM_000368.4:c.782A>G NP_000359.1:p.Lys261Arg missense
... more HGVS
Protein change
K261R
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Exome Aggregation Consortium (ExAC) 0.00007
The Genome Aggregation Database (gnomAD), exomes 0.00004
Links
ClinGen: CA038935
dbSNP: rs371225009
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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 Mar 4, 2019 RCV000232948.2
Likely benign 1 criteria provided, single submitter Jan 16, 2018 RCV000719387.1
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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
1869 1907

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Mar 04, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000284737.3
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Jan 16, 2018)
criteria provided, single submitter
Method: clinical testing
History of neurodevelopmental disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000850253.2
Submitted: (Jul 30, 2018)
Evidence details
Comment:
Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification

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 Dec 17, 2019