• not current

PTPN11:c.1530G>C (p.Gln510His) AND Rasopathy

Clinical significance:conflicting data from submitters, pathogenic;variant of unknown significance (Last evaluated: Mar 1, 2013)

Review status:2 stars out of maximum of 4 stars

conflicting data from submitters (classified by multiple submitters)

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000033555.3

Allele description

PTPN11:c.1530G>C (p.Gln510His)

Gene:
PTPN11:protein tyrosine phosphatase, non-receptor type 11 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.1
Preferred name:
PTPN11:c.1530G>C (p.Gln510His)
HGVS:
  • NC_000012.11:g.112926910G>C
  • NG_007459.1:g.75375G>C
  • NM_002834.3:c.1530G>C
  • NP_002825.3:p.Gln510His
Protein change:
Q510H
Links:
dbSNP: rs397507550
NCBI 1000 Genomes Browser:
rs397507550
Molecular consequence:
  • NM_002834.3:c.1530G>C - missense - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Rasopathy
Synonyms:
rasopathies; rasopathy
Identifiers:
MedGen: CN166718

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000057460GeneDxclassified by single submitterMUTuncertainclinical testing

SCV000058286Emory Genetics Laboratoryclassified by single submittervariant of unknown significance
(Mar 1, 2013)
not providedclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedunknownnot providednot providednot providednot providednot providedclinical testing
not provideduncertainnot providednot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000057460.2

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

Description

Converted during submission to pathogenic.

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

From Emory Genetics Laboratory, SCV000058286.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 4, 2013

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