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NM_000548.5(TSC2):c.4495_4499del (p.Phe1499Valfs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 22, 2016
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:
RCV000366825.1

Allele description [Variation Report for NM_000548.5(TSC2):c.4495_4499del (p.Phe1499Valfs)]

NM_000548.5(TSC2):c.4495_4499del (p.Phe1499Valfs)

Gene:
TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000548.5(TSC2):c.4495_4499del (p.Phe1499Valfs)
HGVS:
  • NC_000016.10:g.2084952_2084956del
  • NG_005895.1:g.40647_40651del
  • NM_000548.5:c.4495_4499delMANE SELECT
  • LRG_487t1:c.4495_4499del
  • LRG_487:g.40647_40651del
  • NC_000016.9:g.2134953_2134957del
  • NM_000548.3:c.4495_4499delTTCGT
Links:
dbSNP: rs886041905
NCBI 1000 Genomes Browser:
rs886041905
Molecular consequence:
  • NM_000548.5:c.4495_4499del - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000330704GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jul 22, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000330704.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.4495_4499delTTCGT pathogenic variant in the TSC2 gene causes a frameshift starting with codon Phenylalanine 1499, changes this amino acid to a Valine residue and creates a premature Stop codon at position 23 of the new reading frame, denoted p.F1499VfsX23. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 5, 2022