NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) AND not provided

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Oct 23, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000518841.6

Allele description [Variation Report for NM_002834.5(PTPN11):c.166A>G (p.Ile56Val)]

NM_002834.5(PTPN11):c.166A>G (p.Ile56Val)

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.166A>G (p.Ile56Val)

Other names:

p.I56V:ATT>GTT; NM_002834.4(PTPN11):c.166A>G

HGVS:

NC_000012.12:g.112450346A>G
NG_007459.1:g.36615A>G
NM_001330437.2:c.166A>G
NM_001374625.1:c.163A>G
NM_002834.5:c.166A>GMANE SELECT
NM_080601.3:c.166A>G
NP_001317366.1:p.Ile56Val
NP_001361554.1:p.Ile55Val
NP_002825.3:p.Ile56Val
NP_002825.3:p.Ile56Val
NP_542168.1:p.Ile56Val
LRG_614t1:c.166A>G
LRG_614:g.36615A>G
NC_000012.11:g.112888150A>G
NM_002834.3:c.166A>G
NM_002834.4:c.166A>G

Protein change:

I55V

Links:

dbSNP: rs397507504

NCBI 1000 Genomes Browser:

rs397507504

Molecular consequence:

NM_001330437.2:c.166A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374625.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002834.5:c.166A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_080601.3:c.166A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000057358	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Oct 23, 2023)	germline	clinical testing	Citation Link,
SCV000927861	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Likely pathogenic (Aug 17, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000057358

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Oct 23, 2023)

germline

clinical testing

Citation Link,

SCV000927861

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Likely pathogenic
(Aug 17, 2018)

germline

clinical testing

Citation Link

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 GeneDx, SCV000057358.16

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26817465, 29907801, 32410215, 30050098, 29493581, 36555586, 33619735)

#	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

From Blueprint Genetics, SCV000927861.1

#	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: Nov 3, 2024

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