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NM_000548.5(TSC2):c.5017G>T (p.Val1673Phe)

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Interpretation:
not provided​

Review status:
no assertion provided
Submissions:
1 (Most recent: Aug 9, 2013)
Accession:
VCV000065153.1
Variation ID:
65153
Description:
single nucleotide variant
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NM_000548.5(TSC2):c.5017G>T (p.Val1673Phe)

Allele ID
76084
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 2087890 (GRCh38) GRCh38 UCSC
16: 2137891 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.2087890G>T
NC_000016.9:g.2137891G>T
NM_000548.5:c.5017G>T NP_000539.2:p.Val1673Phe missense
... more HGVS
Protein change
V1673F
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (C)

Allele frequency
-
Links
ClinGen: CA021508
Tuberous sclerosis database (TSC2): TSC2_02076
dbSNP: rs45490993
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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 - RCV000055369.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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: SCV000083590.2
Submitted: (Aug 09, 2013)
Evidence details

Citations for this variant

Title Author Journal Year Link
Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex. Hoogeveen-Westerveld M Human mutation 2013 PMID: 22903760

Record last updated Oct 27, 2019