NM_000548.4(TSC2):c.5024C>T (p.Pro1675Leu) AND Tuberous sclerosis 2

Clinical significance:Pathogenic (Last evaluated: Oct 1, 1997)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000013201.23

Allele description [Variation Report for NM_000548.4(TSC2):c.5024C>T (p.Pro1675Leu)]

NM_000548.4(TSC2):c.5024C>T (p.Pro1675Leu)

Gene:
TSC2:tuberous sclerosis 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000548.4(TSC2):c.5024C>T (p.Pro1675Leu)
HGVS:
  • NC_000016.10:g.2087897C>T
  • NG_005895.1:g.43592C>T
  • NM_000548.4:c.5024C>T
  • NP_000539.2:p.Pro1675Leu
  • LRG_487t1:c.5024C>T
  • LRG_487:g.43592C>T
  • LRG_487p1:p.Pro1675Leu
  • NC_000016.9:g.2137898C>T
  • NM_000548.3:c.5024C>T
  • p.(Pro1675Leu)
Protein change:
P1675L; PRO1675LEU
Links:
Tuberous sclerosis database (TSC2): TSC2_00033; OMIM: 191092.0009; dbSNP: 45483392
NCBI 1000 Genomes Browser:
rs45483392
Molecular consequence:
  • NM_000548.4:c.5024C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Tuberous sclerosis 2 (TSC2)
Identifiers:
MedGen: C1860707; Orphanet: 805; OMIM: 613254
Age of onset:
All ages
Prevalence:
1-9 / 1 000 000 805

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000033448OMIMno assertion criteria providedPathogenic
(Oct 1, 1997)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.

Maheshwar MM, Cheadle JP, Jones AC, Myring J, Fryer AE, Harris PC, Sampson JR.

Hum Mol Genet. 1997 Oct;6(11):1991-6.

PubMed [citation]
PMID:
9302281

Details of each submission

From OMIM, SCV000033448.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 4 unrelated patients with tuberous sclerosis-2 (613254), Maheshwar et al. (1997) identified a C-to-T transition at nucleotide 5042 of the TSC2 gene, which resulted in a proline-to-leucine substitution at codon 1675 (P1675L).

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

Last Updated: Jun 7, 2016