Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000548.5(TSC2):c.5336A>G (p.Gln1779Arg)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 19, 2020
Accession:
VCV000514715.5
Variation ID:
514715
Description:
single nucleotide variant
Help

NM_000548.5(TSC2):c.5336A>G (p.Gln1779Arg)

Allele ID
505236
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 2088522 (GRCh38) GRCh38 UCSC
16: 2138523 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.2088522A>G
NC_000016.9:g.2138523A>G
NM_000548.5:c.5336A>G MANE Select NP_000539.2:p.Gln1779Arg missense
... more HGVS
Protein change
Q1779R, Q1664R, Q1676R, Q1732R, Q1736R, Q1713R, Q1723R, Q1535R, Q1712R, Q1735R, Q1756R
Other names
-
Canonical SPDI
NC_000016.10:2088521:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA055149
dbSNP: rs748947919
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jan 17, 2018 RCV000604792.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Aug 19, 2020 RCV000644420.5
Help
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
6374 6526

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jan 17, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000726597.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Uncertain significance
(Aug 19, 2020)
criteria provided, single submitter
Method: clinical testing
Tuberous sclerosis 2
Allele origin: germline
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital
Accession: SCV000890947.2
Submitted: (Oct 07, 2020)
Evidence details
Benign
(Apr 21, 2020)
criteria provided, single submitter
Method: clinical testing
Tuberous sclerosis 2
Allele origin: germline
Invitae
Accession: SCV000766113.4
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

Help
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

Help
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs748947919...

Help
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 Aug 14, 2021