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NM_000548.5(TSC2):c.4573C>T (p.Gln1525Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 29, 2019)
Last evaluated:
Nov 20, 2014
Accession:
VCV000049306.2
Variation ID:
49306
Description:
single nucleotide variant
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NM_000548.5(TSC2):c.4573C>T (p.Gln1525Ter)

Allele ID
58468
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 2085233 (GRCh38) GRCh38 UCSC
16: 2135234 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.2085233C>T
NC_000016.9:g.2135234C>T
NM_021055.2:c.4444C>T NP_066399.2:p.Gln1482Ter nonsense
... more HGVS
Protein change
Q1525*
Other names
p.Q1525*:CAG>TAG
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
-
Links
ClinGen: CA020707
Tuberous sclerosis database (TSC2): TSC2_00694
dbSNP: rs45517352
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Nov 20, 2014 RCV000190034.1
not provided 1 no assertion provided - RCV000042565.2
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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
Pathogenic
(Nov 20, 2014)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000243707.10
Submitted: (Jan 29, 2019)
Evidence details
Comment:
p.Gln1525Ter (CAG>TAG): c.4573 C>T in exon 36 of the TSC2 gene (NM_000548.3)The Q1525X nonsense mutation in the TSC2 gene has been reported previously in association ... (more)
not provided
(-)
no assertion provided
Method: curation
TSC
Allele origin: germline
Tuberous sclerosis database (TSC2)
Accession: SCV000066359.3
Submitted: (Aug 09, 2013)
Evidence details

Citations for this variant

Title Author Journal Year Link
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
TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios. Langkau N European journal of pediatrics 2002 PMID: 12111193

Record last updated Oct 27, 2019