NM_000548.4(TSC2):c.4508A>C (p.Gln1503Pro) AND Tuberous sclerosis 2

Clinical significance:Pathogenic (Last evaluated: Sep 3, 2015)

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

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000013210.25

Allele description [Variation Report for NM_000548.4(TSC2):c.4508A>C (p.Gln1503Pro)]

NM_000548.4(TSC2):c.4508A>C (p.Gln1503Pro)

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.4508A>C (p.Gln1503Pro)
HGVS:
  • NC_000016.10:g.2084965A>C
  • NG_005895.1:g.40660A>C
  • NM_000548.4:c.4508A>C
  • NP_000539.2:p.Gln1503Pro
  • LRG_487t1:c.4508A>C
  • LRG_487:g.40660A>C
  • LRG_487p1:p.Gln1503Pro
  • NC_000016.9:g.2134966A>C
  • NM_000548.3:c.4508A>C
  • p.(Gln1503Pro)
Protein change:
Q1503P; GLN1503PRO
Links:
Tuberous sclerosis database (TSC2): TSC2_00747; OMIM: 191092.0011; dbSNP: 45516293
NCBI 1000 Genomes Browser:
rs45516293
Molecular consequence:
  • NM_000548.4:c.4508A>C - 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
SCV000033457OMIMno assertion criteria providedPathogenic
(May 1, 2001)
germlineliterature only

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

SCV000245754GeneReviewsno assertion criteria providedPathogenic
(Sep 3, 2015)
germlineliterature only

Citation Link

Summary from all submissions

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

Citations

PubMed

A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex.

Khare L, Strizheva GD, Bailey JN, Au KS, Northrup H, Smith M, Smalley SL, Henske EP.

J Med Genet. 2001 May;38(5):347-9. No abstract available.

PubMed [citation]
PMID:
11403047
PMCID:
PMC1734876

Details of each submission

From OMIM, SCV000033457.2

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

Description

In affected members of a family with mild physical features of tuberous sclerosis (613254) in association with neuropsychiatric disorders, Khare et al. (2001) reported an A-to-C transversion at nucleotide 4508 in exon 34 of the TSC2 gene. This mutation resulted in the substitution of a proline residue for a glutamine at codon 1503 (Q2503P), which Khare et al. (2001) pointed out is within a region with homology to Rap1 GTPase-activating protein (600278). Khare et al. (2001) also found this mutation in an unrelated family from the same geographic area.

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

From GeneReviews, SCV000245754.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 1, 2017