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.1762_1763GA[1] (p.Glu588fs)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 5, 2017)
Last evaluated:
May 8, 2017
Accession:
VCV000467893.1
Variation ID:
467893
Description:
2bp microsatellite
Help

NM_000548.5(TSC2):c.1762_1763GA[1] (p.Glu588fs)

Allele ID
465240
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
16p13.3
Genomic location
16: 2070503-2070504 (GRCh38) GRCh38 UCSC
16: 2120504-2120505 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.2070501_2070502GA[1]
NC_000016.9:g.2120502_2120503GA[1]
NM_000548.5:c.1762_1763GA[1] NP_000539.2:p.Glu588fs frameshift
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658658366
dbSNP: rs1555505103
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter May 8, 2017 RCV000559306.1
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
4585 4675

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 08, 2017)
criteria provided, single submitter
Method: clinical testing
Tuberous sclerosis 2
Allele origin: germline
Invitae
Accession: SCV000644278.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change deletes 2 nucleotides from exon 17 of the TSC2 mRNA (c.1764_1765delGA), causing a frameshift at codon 588. This creates a premature translational ... (more)

Citations for this variant

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

Record last updated Oct 27, 2019