NM_002834.5(PTPN11):c.*41_*46del AND Noonan syndrome with multiple lentigines

NM_002834.5(PTPN11):c.41_46del AND Noonan syndrome with multiple lentigines

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000362740.5

Allele description [Variation Report for NM_002834.5(PTPN11):c.41_46del]

NM_002834.5(PTPN11):c.41_46del

Gene:

PTPN11:protein tyrosine phosphatase non-receptor type 11 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12q24.13

Genomic location:

Preferred name:

NM_002834.5(PTPN11):c.*41_*46del

HGVS:

NC_000012.12:g.112505833_112505838del
NG_007459.1:g.92102_92107del
NM_001330437.2:c.*41_*46del
NM_001374625.1:c.*41_*46del
NM_002834.4:c.*41_*46del6
NM_002834.5:c.*41_*46delMANE SELECT
LRG_614t1:c.*41_*46del
LRG_614:g.92102_92107del
NC_000012.11:g.112943637_112943642del
NM_002834.3:c.*41_*46delTTTCAC

Links:

dbSNP: rs886048967

NCBI 1000 Genomes Browser:

rs886048967

Molecular consequence:

NM_001330437.2:c.*41_*46del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001374625.1:c.*41_*46del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_002834.5:c.*41_*46del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:: Noonan syndrome with multiple lentigines (NSML)
Synonyms:: Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, Deafness; Cardiomyopathic lentiginosis; LEOPARD syndrome
Identifiers:: MONDO: MONDO:0007893; MedGen: C0175704; Orphanet: 500; OMIM: PS151100

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000376340	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000376340

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000376340.2

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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