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NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jul 14, 2020)
Last evaluated:
Jul 10, 2020
Accession:
VCV000049241.3
Variation ID:
49241
Description:
single nucleotide variant
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NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro)

Allele ID
58403
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 2079160 (GRCh38) GRCh38 UCSC
16: 2129161 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.2079160G>C
NC_000016.9:g.2129161G>C
NG_005895.1:g.34855G>C
... more HGVS
Protein change
R1032P, R952P, R988P, R940P, R788P, R989P, R999P
Other names
-
Canonical SPDI
NC_000016.10:2079159:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA018497
Tuberous sclerosis database (TSC2): TSC2_00739
dbSNP: rs45491698
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 3 criteria provided, multiple submitters, no conflicts Jul 10, 2020 RCV000201071.4
not provided 1 no assertion provided - RCV000042500.2
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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
6465 6631

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jul 09, 2015)
criteria provided, single submitter
Method: clinical testing
Tuberous sclerosis 2
(Autosomal dominant inheritance)
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000255889.2
Submitted: (Oct 06, 2015)
Evidence details
Publications
PubMed (1)
Pathogenic
(May 03, 2017)
criteria provided, single submitter
Method: clinical testing
Tuberous sclerosis 2
Allele origin: germline
Invitae
Accession: SCV000644403.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change replaces arginine with proline at codon 1032 of the TSC2 protein (p.Arg1032Pro). The arginine residue is highly conserved and there is a … (more)
Likely pathogenic
(Jul 10, 2020)
criteria provided, single submitter
Method: clinical testing
Tuberous sclerosis 2
Allele origin: germline
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University
Accession: SCV001423569.1
Submitted: (Jul 14, 2020)
Evidence details
not provided
(-)
no assertion provided
Method: curation
TSC
Allele origin: germline
Tuberous sclerosis database (TSC2)
Accession: SCV000066291.3
Submitted: (Aug 09, 2013)
Evidence details

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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Title Author Journal Year Link
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. Hoogeveen-Westerveld M Human mutation 2011 PMID: 21309039
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

Text-mined citations for rs45491698...

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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 27, 2021