NM_002834.5(PTPN11):c.387A>C (p.Lys129Asn) AND Noonan syndrome

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001261103.2

Allele description [Variation Report for NM_002834.5(PTPN11):c.387A>C (p.Lys129Asn)]

NM_002834.5(PTPN11):c.387A>C (p.Lys129Asn)

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.387A>C (p.Lys129Asn)
HGVS:
  • NC_000012.12:g.112453249A>C
  • NG_007459.1:g.39518A>C
  • NM_001330437.2:c.387A>C
  • NM_001374625.1:c.384A>C
  • NM_002834.5:c.387A>CMANE SELECT
  • NM_080601.3:c.387A>C
  • NP_001317366.1:p.Lys129Asn
  • NP_001361554.1:p.Lys128Asn
  • NP_002825.3:p.Lys129Asn
  • NP_542168.1:p.Lys129Asn
  • LRG_614:g.39518A>C
  • NC_000012.11:g.112891053A>C
  • NM_002834.4:c.387A>C
Protein change:
K128N
Links:
Molecular consequence:
  • NM_001330437.2:c.387A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374625.1:c.384A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002834.5:c.387A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080601.3:c.387A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Noonan syndrome (NS)
Synonyms:
Noonan's syndrome; Pseudo-Turner syndrome
Identifiers:
MONDO: MONDO:0018997; MeSH: D009634; MedGen: C0028326; OMIM: PS163950

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001438508Service de Génétique Moléculaire, Hôpital Robert Debré
no assertion criteria provided
Uncertain significancepaternalclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalnonot provided1not providednot providednot providedclinical testing

Details of each submission

From Service de Génétique Moléculaire, Hôpital Robert Debré, SCV001438508.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalnonot providednot providednot providednot providednot provided1not provided

Last Updated: Jun 23, 2024