NM_000368.4(TSC1):c.1580_1581delAG (p.Gln527Argfs) AND Tuberous sclerosis 1

Clinical significance:Pathogenic (Last evaluated: Aug 5, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000201005.1

Allele description [Variation Report for NM_000368.4(TSC1):c.1580_1581delAG (p.Gln527Argfs)]

NM_000368.4(TSC1):c.1580_1581delAG (p.Gln527Argfs)

Gene:
TSC1:TSC complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q34.13
Genomic location:
Preferred name:
NM_000368.4(TSC1):c.1580_1581delAG (p.Gln527Argfs)
HGVS:
  • NC_000009.12:g.132905997_132905998delCT
  • NG_012386.1:g.43636_43637delAG
  • NM_000368.4:c.1580_1581delAG
  • NP_000359.1:p.Gln527Argfs
  • LRG_486t1:c.1580_1581delAG
  • LRG_486:g.43636_43637delAG
  • LRG_486p1:p.Gln527Argfs
  • NC_000009.11:g.135781384_135781385delCT
  • NM_000368.3:c.1580_1581del
  • NM_000368.3:c.1580_1581delAG
  • NM_000368.4:c.1580_1581del
  • p.(Gln527Argfs*7)
Links:
Tuberous sclerosis database (TSC1): TSC1_00099; dbSNP: rs118203550
NCBI 1000 Genomes Browser:
rs118203550
Molecular consequence:
  • NM_000368.4:c.1580_1581delAG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Tuberous sclerosis 1 (TSC1)
Identifiers:
MedGen: C1854465; Orphanet: 805; OMIM: 191100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000255851Athena Diagnostics Inccriteria provided, single submitter
Pathogenic
(Aug 5, 2015)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, Lindhout D, van den Ouweland A, Halley D, Young J, Burley M, Jeremiah S, Woodward K, Nahmias J, Fox M, Ekong R, Osborne J, Wolfe J, Povey S, Snell RG, Cheadle JP, Jones AC, et al.

Science. 1997 Aug 8;277(5327):805-8.

PubMed [citation]
PMID:
9242607

Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.

Jones AC, Daniells CE, Snell RG, Tachataki M, Idziaszczyk SA, Krawczak M, Sampson JR, Cheadle JP.

Hum Mol Genet. 1997 Nov;6(12):2155-61.

PubMed [citation]
PMID:
9328481
See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics Inc, SCV000255851.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 21, 2018