NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) AND CBL-related disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 30, 2014
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:: RCV000492270.10

Allele description [Variation Report for NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)]

NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.13

Genomic location:

Preferred name:

NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)

Other names:

p.Y279C:TAT>TGT

HGVS:

NC_000012.12:g.112473023A>G
NG_007459.1:g.59292A>G
NM_001330437.2:c.836A>G
NM_001374625.1:c.833A>G
NM_002834.5:c.836A>GMANE SELECT
NM_080601.3:c.836A>G
NP_001317366.1:p.Tyr279Cys
NP_001361554.1:p.Tyr278Cys
NP_002825.3:p.Tyr279Cys
NP_002825.3:p.Tyr279Cys
NP_542168.1:p.Tyr279Cys
LRG_614t1:c.836A>G
LRG_614:g.59292A>G
LRG_614p1:p.Tyr279Cys
NC_000012.11:g.112910827A>G
NM_001330437.1:c.836A>G
NM_002834.3:c.836A>G
NM_002834.4:c.836A>G
NM_080601.1:c.836A>G
NM_080601.2:c.836A>G
Q06124:p.Tyr279Cys
p.Tyr279His

Protein change:

Y278C; TYR279CYS

Links:

UniProtKB: Q06124#VAR_015614; OMIM: 176876.0005; dbSNP: rs121918456

NCBI 1000 Genomes Browser:

rs121918456

Molecular consequence:

NM_001330437.2:c.836A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374625.1:c.833A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002834.5:c.836A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_080601.3:c.836A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: CBL-related disorder
Synonyms:: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; CBL MUTATION-ASSOCIATED SYNDROME; CBL SYNDROME; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0013308; MedGen: C3150803; OMIM: 613563

Recent activity

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Homo sapiens flavoprotein oxidoreductase MICAL2 (MICAL2), mRNA
Homo sapiens flavoprotein oxidoreductase MICAL2 (MICAL2), mRNA
gi|7662283|ref|NM_014632.1|

Nucleotide
bgl2 glucan beta-glucosidase Bgl2 [Schizosaccharomyces pombe]
bgl2 glucan beta-glucosidase Bgl2 [Schizosaccharomyces pombe]
Gene ID:2542700

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000494671	Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 30, 2014)	germline	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 25731833

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000494671

Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 30, 2014)

germline

research

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

Help

Summary from all submissions

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

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

Neonatal hypertrophic cardiomyopathy caused by double mutation in RAS pathway genes.

Pervunina T, Vershinina T, Kiselev A, Nikitina I, Grekhov E, Mitrofanova L, Sjoberg G, Kostareva A.

Int J Cardiol. 2015 Apr 1;184:272-273. doi: 10.1016/j.ijcard.2015.02.029. Epub 2015 Feb 24. No abstract available.

PubMed [citation]

PMID:: 25731833

Details of each submission

From Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre, SCV000494671.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Gaucasian	not provided	not provided	not provided	research	PubMed (2)

Description

The variant was detected in a neonate with congenital intrauterine revealed myocardial hypertrophy. The main clinical sign was myocardial hypertrophy and cardiac output deficit due to reduced LV cavity. No morphological signs of Noonan syndrome were observed. The variant was detected in combination with CBL NM_005188: exon11: c.G1754T :p.R585L variant in RAS-pathway (PMID 25731833).

#	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: Sep 16, 2024

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