NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile) AND Craniopharyngioma

Clinical significance:Uncertain significance (Last evaluated: Nov 15, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000761088.1

Allele description [Variation Report for NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile)]

NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile)

Gene:
TSC1:TSC complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.13
Genomic location:
Preferred name:
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile)
HGVS:
  • NC_000009.12:g.132910603G>T
  • NG_012386.1:g.39031C>A
  • NM_000368.4:c.1231C>A
  • NM_000368.5:c.1231C>AMANE SELECT
  • NM_001162426.2:c.1228C>A
  • NM_001162427.2:c.1078C>A
  • NM_001362177.2:c.868C>A
  • NP_000359.1:p.Leu411Ile
  • NP_000359.1:p.Leu411Ile
  • NP_001155898.1:p.Leu410Ile
  • NP_001155899.1:p.Leu360Ile
  • NP_001349106.1:p.Leu290Ile
  • LRG_486t1:c.1231C>A
  • LRG_486:g.39031C>A
  • LRG_486p1:p.Leu411Ile
  • NC_000009.11:g.135785990G>T
  • Q92574:p.Leu411Ile
  • p.(Leu411Ile)
Protein change:
L290I
Links:
Tuberous sclerosis database (TSC1): TSC1_00469; UniProtKB: Q92574#VAR_070650; dbSNP: rs397514840
NCBI 1000 Genomes Browser:
rs397514840
Molecular consequence:
  • NM_000368.4:c.1231C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000368.5:c.1231C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001162426.2:c.1228C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001162427.2:c.1078C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362177.2:c.868C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Craniopharyngioma
Synonyms:
Rathke's pouch tumor; Craniopharyngeal duct tumor; Adamantinomatous tumor; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018907; MeSH: D003397; MedGen: C0010276; Human Phenotype Ontology: HP:0030062

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000891003St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospitalcriteria provided, single submitter
Uncertain significance
(Nov 15, 2016)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital, SCV000891003.1

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

Last Updated: Nov 27, 2021

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