NM_002834.5(PTPN11):c.1028G>A (p.Arg343Gln) AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Mar 19, 2019
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:: RCV000159507.7

Allele description [Variation Report for NM_002834.5(PTPN11):c.1028G>A (p.Arg343Gln)]

NM_002834.5(PTPN11):c.1028G>A (p.Arg343Gln)

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.1028G>A (p.Arg343Gln)

Other names:

p.R343Q:CGG>CAG; NM_002834.4(PTPN11):c.1028G>A

HGVS:

NC_000012.12:g.112477951G>A
NG_007459.1:g.64220G>A
NM_001330437.2:c.1028G>A
NM_001374625.1:c.1025G>A
NM_002834.5:c.1028G>AMANE SELECT
NM_080601.3:c.1028G>A
NP_001317366.1:p.Arg343Gln
NP_001361554.1:p.Arg342Gln
NP_002825.3:p.Arg343Gln
NP_542168.1:p.Arg343Gln
LRG_614t1:c.1028G>A
LRG_614:g.64220G>A
NC_000012.11:g.112915755G>A
NC_000012.11:g.112915755G>A
NM_002834.3:c.1028G>A
NM_080601.1:c.1028G>A

Protein change:

R342Q

Links:

dbSNP: rs535800148

NCBI 1000 Genomes Browser:

rs535800148

Molecular consequence:

NM_001330437.2:c.1028G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374625.1:c.1025G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002834.5:c.1028G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_080601.3:c.1028G>A - 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
SCV000209461	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Mar 19, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000209461

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Mar 19, 2019)

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, SCV000209461.11

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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 29, 2024

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