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NM_002834.5(PTPN11):c.501G>C (p.Val167=) AND Noonan syndrome 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 29, 2000
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:
RCV003126404.2

Allele description [Variation Report for NM_002834.5(PTPN11):c.501G>C (p.Val167=)]

NM_002834.5(PTPN11):c.501G>C (p.Val167=)

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.501G>C (p.Val167=)
HGVS:
  • NC_000012.12:g.112453363G>C
  • NG_007459.1:g.39632G>C
  • NM_001330437.2:c.501G>C
  • NM_001374625.1:c.498G>C
  • NM_002834.5:c.501G>CMANE SELECT
  • NM_080601.3:c.501G>C
  • NP_001317366.1:p.Val167=
  • NP_001361554.1:p.Val166=
  • NP_002825.3:p.Val167=
  • NP_002825.3:p.Val167=
  • NP_542168.1:p.Val167=
  • LRG_614t1:c.501G>C
  • LRG_614:g.39632G>C
  • LRG_614p1:p.Val167=
  • NC_000012.11:g.112891167G>C
  • NM_002834.3:c.501G>C
Links:
dbSNP: rs2135867430
NCBI 1000 Genomes Browser:
rs2135867430
Molecular consequence:
  • NM_001330437.2:c.501G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374625.1:c.498G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002834.5:c.501G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_080601.3:c.501G>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Name:
Noonan syndrome 1 (NS1)
Synonyms:
FEMALE PSEUDO-TURNER SYNDROME; TURNER PHENOTYPE WITH NORMAL KARYOTYPE
Identifiers:
MONDO: MONDO:0008104; MedGen: C4551602; Orphanet: 648; OMIM: 163950

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003803097Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
criteria provided, single submitter

(Hauer et al. (Genet Med. 2018))		Uncertain significance
(Dec 29, 2000) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

Hauer NN, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Abou Jamra R, Kunstmann E, Wieczorek D, Uebe S, Ferrazzi F, Büttner C, Ekici AB, Rauch A, Sticht H, Dörr HG, et al.

Genet Med. 2018 Jun;20(6):630-638. doi: 10.1038/gim.2017.159. Epub 2017 Oct 12.

PubMed [citation]
PMID:
29758562
PMCID:
PMC5993671

Details of each submission

From Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, SCV003803097.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

IrgendeinKommentar

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 16, 2025