NM_006767.4(LZTR1):c.1785+1G>C AND Noonan syndrome 10

Clinical significance:Pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001264409.1

Allele description [Variation Report for NM_006767.4(LZTR1):c.1785+1G>C]

NM_006767.4(LZTR1):c.1785+1G>C

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_006767.4(LZTR1):c.1785+1G>C
HGVS:
  • NC_000022.11:g.20994728G>C
  • NG_034193.1:g.17460G>C
  • NM_006767.4:c.1785+1G>CMANE SELECT
  • LRG_989t1:c.1785+1G>C
  • LRG_989:g.17460G>C
  • NC_000022.10:g.21349017G>C
Molecular consequence:
  • NM_006767.4:c.1785+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001441612Institute for Genomic Statistics and Bioinformatics, University Hospital Bonncriteria provided, single submitter
Pathogenicde novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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 Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, SCV001441612.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

ACMG classification: pathogenic (class 5: PVS1, PM2, PP3)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 7, 2021

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