U.S. flag

An official website of the United States government

NM_000548.5(TSC2):c.4494-1G>C AND Tuberous sclerosis syndrome

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000042753.3

Allele description [Variation Report for NM_000548.5(TSC2):c.4494-1G>C]

NM_000548.5(TSC2):c.4494-1G>C

Gene:
TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000548.5(TSC2):c.4494-1G>C
HGVS:
  • NC_000016.10:g.2084950G>C
  • NG_005895.1:g.40645G>C
  • NM_000548.5:c.4494-1G>CMANE SELECT
  • NM_001077183.3:c.4293-1G>C
  • NM_001114382.3:c.4425-1G>C
  • NM_001318827.2:c.4185-1G>C
  • NM_001318829.2:c.4149-1G>C
  • NM_001318831.2:c.3762-1G>C
  • NM_001318832.2:c.4326-1G>C
  • NM_001363528.2:c.4296-1G>C
  • NM_001370404.1:c.4362-1G>C
  • NM_001370405.1:c.4365-1G>C
  • NM_001406663.1:c.4491-1G>C
  • NM_001406664.1:c.4422-1G>C
  • NM_001406665.1:c.4416-1G>C
  • NM_001406667.1:c.4386-1G>C
  • NM_001406668.1:c.4383-1G>C
  • NM_001406670.1:c.4314-1G>C
  • NM_001406671.1:c.4284-1G>C
  • NM_001406673.1:c.4281-1G>C
  • NM_001406675.1:c.4278-1G>C
  • NM_001406676.1:c.4275-1G>C
  • NM_001406677.1:c.4236-1G>C
  • NM_001406678.1:c.4182-1G>C
  • NM_001406679.1:c.4146-1G>C
  • NM_001406680.1:c.3894-1G>C
  • NM_001406681.1:c.3834-1G>C
  • NM_001406682.1:c.3825-1G>C
  • NM_001406683.1:c.3825-1G>C
  • NM_001406684.1:c.3822-1G>C
  • NM_001406685.1:c.3696-1G>C
  • NM_001406686.1:c.3696-1G>C
  • NM_001406687.1:c.3693-1G>C
  • NM_001406688.1:c.3693-1G>C
  • NM_001406689.1:c.3081-1G>C
  • NM_001406690.1:c.3021-1G>C
  • NM_001406691.1:c.3018-1G>C
  • NM_001406692.1:c.2952-1G>C
  • NM_001406693.1:c.2952-1G>C
  • NM_001406694.1:c.2952-1G>C
  • NM_001406695.1:c.2949-1G>C
  • NM_001406696.1:c.2949-1G>C
  • NM_001406697.1:c.2949-1G>C
  • NM_001406698.1:c.2691-1G>C
  • NM_021055.3:c.4365-1G>C
  • LRG_487t1:c.4494-1G>C
  • LRG_487:g.40645G>C
  • NC_000016.9:g.2134951G>C
  • NM_000548.3:c.4494-1G>C
  • p.?
Links:
Tuberous sclerosis database (TSC2): TSC2_01109; dbSNP: rs45517346
NCBI 1000 Genomes Browser:
rs45517346
Molecular consequence:
  • NM_000548.5:c.4494-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001077183.3:c.4293-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001114382.3:c.4425-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001318827.2:c.4185-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001318829.2:c.4149-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001318831.2:c.3762-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001318832.2:c.4326-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001363528.2:c.4296-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001370404.1:c.4362-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001370405.1:c.4365-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406663.1:c.4491-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406664.1:c.4422-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406665.1:c.4416-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406667.1:c.4386-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406668.1:c.4383-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406670.1:c.4314-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406671.1:c.4284-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406673.1:c.4281-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406675.1:c.4278-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406676.1:c.4275-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406677.1:c.4236-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406678.1:c.4182-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406679.1:c.4146-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406680.1:c.3894-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406681.1:c.3834-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406682.1:c.3825-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406683.1:c.3825-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406684.1:c.3822-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406685.1:c.3696-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406686.1:c.3696-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406687.1:c.3693-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406688.1:c.3693-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406689.1:c.3081-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406690.1:c.3021-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406691.1:c.3018-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406692.1:c.2952-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406693.1:c.2952-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406694.1:c.2952-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406695.1:c.2949-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406696.1:c.2949-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406697.1:c.2949-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406698.1:c.2691-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_021055.3:c.4365-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Tuberous sclerosis syndrome (TSC)
Synonyms:
Tuberous sclerosis
Identifiers:
MONDO: MONDO:0001734; MedGen: C0041341; OMIM: PS191100

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000066548Tuberous sclerosis database (TSC2)
no classification provided

(Tuberous Sclerosis Database Assertion Criteria 2015)		not providedgermlinecuration

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedcuration

Citations

PubMed

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, Nellist M, Goedbloed M, Elfferich P, Wouters C, Maat-Kievit A, Zonnenberg B, Verhoef S, Halley D, van den Ouweland A.

Eur J Hum Genet. 2005 Jun;13(6):731-41.

PubMed [citation]
PMID:
15798777

TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex.

Muzykewicz DA, Sharma A, Muse V, Numis AL, Rajagopal J, Thiele EA.

J Med Genet. 2009 Jul;46(7):465-8. doi: 10.1136/jmg.2008.065342. Epub 2009 May 5.

PubMed [citation]
PMID:
19419980

Details of each submission

From Tuberous sclerosis database (TSC2), SCV000066548.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 2, 2024