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NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys) AND Noonan syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 29, 2022
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:
RCV002260947.8

Allele description [Variation Report for NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys)]

NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys)

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.1502G>A (p.Arg501Lys)
Other names:
p.R501K:AGG>AAG
HGVS:
  • NC_000012.12:g.112489078G>A
  • NG_007459.1:g.75347G>A
  • NM_001330437.2:c.1514G>A
  • NM_001374625.1:c.1499G>A
  • NM_002834.5:c.1502G>AMANE SELECT
  • NP_001317366.1:p.Arg505Lys
  • NP_001361554.1:p.Arg500Lys
  • NP_002825.3:p.Arg501Lys
  • NP_002825.3:p.Arg501Lys
  • LRG_614t1:c.1502G>A
  • LRG_614:g.75347G>A
  • LRG_614p1:p.Arg501Lys
  • NC_000012.11:g.112926882G>A
  • NM_002834.3:c.1502G>A
  • NM_002834.4:c.1502G>A
  • NM_080601.1:c.*2445G>A
  • c.1502G>A
Protein change:
R500K
Links:
dbSNP: rs397507543
NCBI 1000 Genomes Browser:
rs397507543
Molecular consequence:
  • NM_001330437.2:c.1514G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374625.1:c.1499G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002834.5:c.1502G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Noonan syndrome 1 (NS1)
Synonyms:
Turner Syndrome, Male; Turner phenotype with normal karyotype; Female pseudo-Turner syndrome
Identifiers:
MONDO: MONDO:0008104; MedGen: C4551602; Orphanet: 648; OMIM: 163950

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002540760Department of Genetics, Beijing BioBiggen Technology Co., Ltd.
no assertion criteria provided
Pathogenic
(Jun 29, 2022)
germlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Department of Genetics, Beijing BioBiggen Technology Co., Ltd., SCV002540760.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2024