U.S. flag

An official website of the United States government

NM_002834.5(PTPN11):c.1004A>C (p.Gln335Pro) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 7, 2017
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:
RCV000377606.2

Allele description [Variation Report for NM_002834.5(PTPN11):c.1004A>C (p.Gln335Pro)]

NM_002834.5(PTPN11):c.1004A>C (p.Gln335Pro)

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.1004A>C (p.Gln335Pro)
HGVS:
  • NC_000012.12:g.112477927A>C
  • NG_007459.1:g.64196A>C
  • NM_001330437.2:c.1004A>C
  • NM_001374625.1:c.1001A>C
  • NM_002834.5:c.1004A>CMANE SELECT
  • NM_080601.3:c.1004A>C
  • NP_001317366.1:p.Gln335Pro
  • NP_001361554.1:p.Gln334Pro
  • NP_002825.3:p.Gln335Pro
  • NP_542168.1:p.Gln335Pro
  • LRG_614t1:c.1004A>C
  • LRG_614:g.64196A>C
  • NC_000012.11:g.112915731A>C
  • NM_002834.3:c.1004A>C
Protein change:
Q334P
Links:
dbSNP: rs886041622
NCBI 1000 Genomes Browser:
rs886041622
Molecular consequence:
  • NM_001330437.2:c.1004A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374625.1:c.1001A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002834.5:c.1004A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080601.3:c.1004A>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
SCV000330321GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Feb 7, 2017) 		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, SCV000330321.6

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

Description

The Q335P variant in the PTPN11 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Q335P variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret Q335P as a variant of uncertain significance

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

Last Updated: Sep 29, 2024