NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
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:: RCV001293867.9

Allele description [Variation Report for NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)]

NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)

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.922A>G (p.Asn308Asp)

Other names:

p.N308D:AAT>GAT; NM_002834.4(PTPN11):c.922A>G

HGVS:

NC_000012.12:g.112477719A>G
NG_007459.1:g.63988A>G
NM_001330437.2:c.922A>G
NM_001374625.1:c.919A>G
NM_002834.5:c.922A>GMANE SELECT
NM_080601.3:c.922A>G
NP_001317366.1:p.Asn308Asp
NP_001361554.1:p.Asn307Asp
NP_002825.3:p.Asn308Asp
NP_002825.3:p.Asn308Asp
NP_542168.1:p.Asn308Asp
LRG_614t1:c.922A>G
LRG_614:g.63988A>G
LRG_614p1:p.Asn308Asp
NC_000012.11:g.112915523A>G
NM_001330437.1:c.922A>G
NM_001330437.2:c.922A>G
NM_002834.3:c.922A>G
NM_002834.4:c.922A>G
NM_080601.1:c.922A>G
Q06124:p.Asn308Asp
c.922A>G
p.(Asn308Asp)
p.ASN308ASP

Protein change:

N307D; ASN308ASP

Links:

UniProtKB: Q06124#VAR_015619; OMIM: 176876.0003; dbSNP: rs28933386

NCBI 1000 Genomes Browser:

rs28933386

Molecular consequence:

NM_001330437.2:c.922A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374625.1:c.919A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002834.5:c.922A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_080601.3:c.922A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001482282	Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001482282

Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

de novo

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	1	no	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

Details of each submission

From Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf, SCV001482282.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	no	research	PubMed (1)

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

Last Updated: Nov 24, 2024

ClinVar

Relating variation to medicine