NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Apr 11, 2024
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:: RCV000033472.16

Allele description [Variation Report for NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro)]

NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro)

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.214G>C (p.Ala72Pro)

Other names:

p.A72P:GCC>CCC

HGVS:

NC_000012.12:g.112450394G>C
NG_007459.1:g.36663G>C
NM_001330437.2:c.214G>C
NM_001374625.1:c.211G>C
NM_002834.4:c.214G>C
NM_002834.5:c.214G>CMANE SELECT
NM_080601.3:c.214G>C
NP_001317366.1:p.Ala72Pro
NP_001361554.1:p.Ala71Pro
NP_002825.3:p.Ala72Pro
NP_542168.1:p.Ala72Pro
LRG_614t1:c.214G>C
LRG_614:g.36663G>C
NC_000012.11:g.112888198G>C
NM_002834.3:c.214G>C
NM_080601.1:c.214G>C
c.214G>C

Protein change:

A71P

Links:

dbSNP: rs121918453

NCBI 1000 Genomes Browser:

rs121918453

Molecular consequence:

NM_001330437.2:c.214G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374625.1:c.211G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002834.5:c.214G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_080601.3:c.214G>C - 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
SCV000057377	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Apr 11, 2024)	germline	clinical testing	Citation Link,
SCV000927439	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Pathogenic (Oct 16, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000057377

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Apr 11, 2024)

germline

clinical testing

Citation Link,

SCV000927439

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Pathogenic
(Oct 16, 2017)

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, SCV000057377.14

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

Description

Identified in probands with ultrasound findings consistent with PTPN11-related RASopathy (PMID: 18759865, 26918529); Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; Not observed in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30355600, 15928039, 12717436, 26918529, 18759865)

#	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, SCV000927439.1

#	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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