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NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) AND Noonan syndrome 10

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 22, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001293930.2

Allele description [Variation Report for NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter)]

NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter)

Gene:
LZTR1:leucine zipper like post translational regulator 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q11.21
Genomic location:
Preferred name:
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter)
HGVS:
  • NC_000022.11:g.20992238C>T
  • NG_034193.1:g.14970C>T
  • NM_006767.4:c.1018C>TMANE SELECT
  • NP_006758.2:p.Arg340Ter
  • LRG_989t1:c.1018C>T
  • LRG_989:g.14970C>T
  • LRG_989p1:p.Arg340Ter
  • NC_000022.10:g.21346527C>T
  • NM_006767.3:c.1018C>T
Protein change:
R340*
Links:
dbSNP: rs149850248
NCBI 1000 Genomes Browser:
rs149850248
Molecular consequence:
  • NM_006767.4:c.1018C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Noonan syndrome 10 (NS10)
Identifiers:
MONDO: MONDO:0014693; MedGen: C4225280; Orphanet: 648; OMIM: 616564

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001482630Baylor Genetics - CSER-TexasKidsCanSeq
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 22, 2020) 		maternalclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Expanding the mutational spectrum of LZTR1 in schwannomatosis.

Paganini I, Chang VY, Capone GL, Vitte J, Benelli M, Barbetti L, Sestini R, Trevisson E, Hulsebos TJ, Giovannini M, Nelson SF, Papi L.

Eur J Hum Genet. 2015 Jul;23(7):963-8. doi: 10.1038/ejhg.2014.220. Epub 2014 Oct 22.

PubMed [citation]
PMID:
25335493
PMCID:
PMC4463507

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 Baylor Genetics - CSER-TexasKidsCanSeq, SCV001482630.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported in a patient affected by schwannomatosis [PMID 25335493]

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

Last Updated: Aug 4, 2024