U.S. flag

An official website of the United States government

NM_000548.5(TSC2):c.132dup (p.Leu45fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001531833.20

Allele description [Variation Report for NM_000548.5(TSC2):c.132dup (p.Leu45fs)]

NM_000548.5(TSC2):c.132dup (p.Leu45fs)

Gene:
TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000548.5(TSC2):c.132dup (p.Leu45fs)
HGVS:
  • NC_000016.10:g.2048747dup
  • NG_005895.1:g.4442dup
  • NG_008412.1:g.4120dup
  • NM_000548.5:c.132dupMANE SELECT
  • NM_001077183.3:c.132dup
  • NM_001114382.3:c.132dup
  • NM_001318827.2:c.132dup
  • NM_001318829.2:c.-10+682dup
  • NM_001318831.2:c.-95dup
  • NM_001318832.2:c.165dup
  • NM_001363528.2:c.132dup
  • NM_001370404.1:c.132dup
  • NM_001370405.1:c.132dup
  • NM_021055.3:c.132dup
  • NP_000539.2:p.Leu45fs
  • NP_001070651.1:p.Leu45fs
  • NP_001107854.1:p.Leu45fs
  • NP_001305756.1:p.Leu45fs
  • NP_001305761.1:p.Leu56fs
  • NP_001350457.1:p.Leu45fs
  • NP_001357333.1:p.Leu45fs
  • NP_001357334.1:p.Leu45fs
  • NP_066399.2:p.Leu45fs
  • LRG_1366:g.4120dup
  • LRG_487:g.4442dup
  • NC_000016.9:g.2098748dup
Protein change:
L45fs
Links:
dbSNP: rs2150973810
NCBI 1000 Genomes Browser:
rs2150973810
Molecular consequence:
  • NM_001318831.2:c.-95dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000548.5:c.132dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001077183.3:c.132dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001114382.3:c.132dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318827.2:c.132dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318832.2:c.165dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001363528.2:c.132dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370404.1:c.132dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370405.1:c.132dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_021055.3:c.132dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318829.2:c.-10+682dup - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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
SCV001747131CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Mar 1, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001747131.20

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024