NM_002834.5(PTPN11):c.48A>G (p.Ala16=) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Nov 10, 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:: RCV000037648.10

Allele description [Variation Report for NM_002834.5(PTPN11):c.48A>G (p.Ala16=)]

NM_002834.5(PTPN11):c.48A>G (p.Ala16=)

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.48A>G (p.Ala16=)

Other names:

NM_002834.4(PTPN11):c.48A>G

HGVS:

NC_000012.12:g.112446309A>G
NG_007459.1:g.32578A>G
NM_001330437.2:c.48A>G
NM_001374625.1:c.48A>G
NM_002834.5:c.48A>GMANE SELECT
NM_080601.3:c.48A>G
NP_001317366.1:p.Ala16=
NP_001361554.1:p.Ala16=
NP_002825.3:p.Ala16=
NP_542168.1:p.Ala16=
LRG_614t1:c.48A>G
LRG_614:g.32578A>G
NC_000012.11:g.112884113A>G
NM_002834.3:c.48A>G
c.48A>G
p.Ala16Ala

Links:

dbSNP: rs372736227

NCBI 1000 Genomes Browser:

rs372736227

Molecular consequence:

NM_001330437.2:c.48A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001374625.1:c.48A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_002834.5:c.48A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_080601.3:c.48A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000061310	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Nov 10, 2014)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 15009076, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000061310

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely benign
(Nov 10, 2014)

germline

clinical testing

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
not provided	germline	not provided	6	6	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations in PTPN11 are uncommon in adult myelodysplastic syndromes and acute myeloid leukaemia.

Johan MF, Bowen DT, Frew ME, Goodeve AC, Wilson GA, Peake IR, Reilly JT.

Br J Haematol. 2004 Mar;124(6):843-4. No abstract available.

PubMed [citation]

PMID:: 15009076

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061310.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	6	not provided	not provided	clinical testing	PubMed (2)

Description

p.Ala16Ala in exon 2 of PTPN11: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 22/66740 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org/; dbSNP rs372736227).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		6	not provided	6	not provided

Last Updated: May 1, 2024

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