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NM_000548.5(TSC2):c.1642_1643del (p.Arg548fs)

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Interpretation:
not provided​

Review status:
no assertion provided
Submissions:
1 (Most recent: Aug 9, 2013)
Accession:
VCV000049168.1
Variation ID:
49168
Description:
2bp deletion
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NM_000548.5(TSC2):c.1642_1643del (p.Arg548fs)

Allele ID
58330
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
16p13.3
Genomic location
16: 2065561-2065562 (GRCh38) GRCh38 UCSC
16: 2115562-2115563 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.2065561_2065562del
NC_000016.9:g.2115562_2115563del
NM_000548.5:c.1642_1643del NP_000539.2:p.Arg548fs frameshift
... more HGVS
Protein change
R348fs
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Tuberous sclerosis database (TSC2): TSC2_00972
dbSNP: rs137854342
ClinGen: CA015385
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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 - RCV000042424.2
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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
4585 4675

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 (TSC2)
Accession: SCV000066215.3
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

Record last updated Nov 01, 2019