NM_006767.3(LZTR1):c.365C>T (p.Ser122Leu) AND Schwannomatosis 2

Clinical significance:Pathogenic (Last evaluated: Feb 1, 2014)

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:
RCV000087293.4

Allele description [Variation Report for NM_006767.3(LZTR1):c.365C>T (p.Ser122Leu)]

NM_006767.3(LZTR1):c.365C>T (p.Ser122Leu)

Gene:
LZTR1:leucine zipper like transcription regulator 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q11.21
Genomic location:
Preferred name:
NM_006767.3(LZTR1):c.365C>T (p.Ser122Leu)
HGVS:
  • NC_000022.11:g.20987548C>T
  • NG_034193.1:g.10280C>T
  • NM_006767.3:c.365C>T
  • NP_006758.2:p.Ser122Leu
  • NC_000022.10:g.21341837C>T
  • Q8N653:p.Ser122Leu
Protein change:
S122L; SER122LEU
Links:
UniProtKB: Q8N653#VAR_071145; OMIM: 600574.0002; dbSNP: 587777177
NCBI 1000 Genomes Browser:
rs587777177
Molecular consequence:
  • NM_006767.3:c.365C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Schwannomatosis 2 (SWNTS2)
Identifiers:
MedGen: C3810283; Orphanet: 93921; OMIM: 615670

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000120171OMIMno assertion criteria providedPathogenic
(Feb 1, 2014)
unknownliterature only

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

Summary from all submissions

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

Citations

PubMed

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.

Piotrowski A, Xie J, Liu YF, Poplawski AB, Gomes AR, Madanecki P, Fu C, Crowley MR, Crossman DK, Armstrong L, Babovic-Vuksanovic D, Bergner A, Blakeley JO, Blumenthal AL, Daniels MS, Feit H, Gardner K, Hurst S, Kobelka C, Lee C, Nagy R, Rauen KA, et al.

Nat Genet. 2014 Feb;46(2):182-7. doi: 10.1038/ng.2855. Epub 2013 Dec 22.

PubMed [citation]
PMID:
24362817
PMCID:
PMC4352302

Details of each submission

From OMIM, SCV000120171.2

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

Description

In a father and son with schwannomatosis-2 (SWNTS2; 615670), Piotrowski et al. (2014) identified a germline heterozygous c.365C-T transition in exon 4 of the LZTR1 gene, resulting in a ser122-to-leu (S122L) substitution at a highly conserved residue in the second Kelch motif. The mutation was not present in the dbSNP (build 137), 1000 Genomes Project, or Exome Sequencing Project databases. Functional studies of the variant were not performed. Tumor tissue also carried the heterozygous LZTR1 mutation, and showed loss of heterozygosity (LOH) at chromosome 22q11, including both the LZTR1 and NF2 (607379) genes. In addition, the tumors carried a heterozygous somatic mutation in the NF2 gene. These findings were consistent with biallelic loss of function of both LZTR1 and NF2 in all tumors.

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

Last Updated: Sep 22, 2017