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NM_000368.4(TSC1):c.2329del (p.Ser777fs)

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Interpretation:
not provided​

Review status:
no assertion provided
Submissions:
1 (Most recent: Aug 9, 2013)
Accession:
VCV000064708.1
Variation ID:
64708
Description:
1bp deletion
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NM_000368.4(TSC1):c.2329del (p.Ser777fs)

Allele ID
75637
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
9q34.13
Genomic location
9: 132902667 (GRCh38) GRCh38 UCSC
9: 135778054 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.135778054del
NC_000009.12:g.132902667del
NM_000368.4:c.2329del NP_000359.1:p.Ser777fs frameshift
... more HGVS
Protein change
S656fs
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA006309
Tuberous sclerosis database (TSC1): TSC1_00662
dbSNP: rs397514780
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
not provided 1 no assertion provided - RCV000054883.1
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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
not provided
(-)
no assertion provided
Method: curation
TSC
Allele origin: germline
Tuberous sclerosis database (TSC1)
Accession: SCV000083098.2
Submitted: (Aug 09, 2013)
Evidence details

Citations for this variant

Title Author Journal Year Link
Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations. Jansen FE Neurology 2008 PMID: 18032745
Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. Sancak O European journal of human genetics : EJHG 2005 PMID: 15798777

Record last updated Oct 27, 2019