U.S. flag

An official website of the United States government

NM_002834.5(PTPN11):c.226G>C (p.Glu76Gln) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 4, 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:
RCV000159045.1

Allele description [Variation Report for NM_002834.5(PTPN11):c.226G>C (p.Glu76Gln)]

NM_002834.5(PTPN11):c.226G>C (p.Glu76Gln)

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.226G>C (p.Glu76Gln)
Other names:
p.E76Q:GAG>CAG
HGVS:
  • NC_000012.12:g.112450406G>C
  • NG_007459.1:g.36675G>C
  • NM_001330437.2:c.226G>C
  • NM_001374625.1:c.223G>C
  • NM_002834.5:c.226G>CMANE SELECT
  • NM_080601.3:c.226G>C
  • NP_001317366.1:p.Glu76Gln
  • NP_001361554.1:p.Glu75Gln
  • NP_002825.3:p.Glu76Gln
  • NP_542168.1:p.Glu76Gln
  • LRG_614t1:c.226G>C
  • LRG_614:g.36675G>C
  • NC_000012.11:g.112888210G>C
  • NM_002834.3:c.226G>C
  • NM_002834.4:c.226G>C
  • NM_002834.5:c.226G>C
Protein change:
E75Q
Links:
dbSNP: rs121918464
NCBI 1000 Genomes Browser:
rs121918464
Molecular consequence:
  • NM_001330437.2:c.226G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374625.1:c.223G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002834.5:c.226G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080601.3:c.226G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000208987GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Aug 4, 2014) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000208987.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

he E76Q missense mutation has not be reported as a benign polymorphism or as a disease-causing mutation, to our knowledge. The E76Q missense change is a non-conservative amino acid substitution with a negatively charged residue (Glu) being replaced by a neutral residue (Gln). It lies in the N-SH2 domain of the gene, which is a hot spot for Noonan syndrome mutations. Several other missense mutations at this codon (E76A, E76K and E76V) have been reported as somatic mutations in association with juvenile myelomonocytic leukemia (JMML) and other hematologic malignancies (Mori et al., 2004 and Tartaglia et al., 2006). However, another missense mutation at this codon (E76D) has been reported previously as a germline mutation in association with Noonan syndrome (Tartaglia et al., 2001 and Tartaglia et al., 2006). The variant is found in NOONAN panel(s).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 4, 2024