NM_006767.4(LZTR1):c.1585T>C (p.Tyr529His) AND Noonan syndrome 10

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 25, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000985025.1

Allele description [Variation Report for NM_006767.4(LZTR1):c.1585T>C (p.Tyr529His)]

NM_006767.4(LZTR1):c.1585T>C (p.Tyr529His)

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.1585T>C (p.Tyr529His)

HGVS:

NC_000022.11:g.20994239T>C
NG_034193.1:g.16971T>C
NM_006767.4:c.1585T>CMANE SELECT
NP_006758.2:p.Tyr529His
LRG_989t1:c.1585T>C
LRG_989:g.16971T>C
LRG_989p1:p.Tyr529His
NC_000022.10:g.21348528T>C
NM_006767.3:c.1585T>C

Protein change:

Y529H

Links:

dbSNP: rs767374538

NCBI 1000 Genomes Browser:

rs767374538

Molecular consequence:

NM_006767.4:c.1585T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001132958	Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	no assertion criteria provided	Uncertain significance (Aug 25, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001132958

Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

no assertion criteria provided

Uncertain significance
(Aug 25, 2019)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City, SCV001132958.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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