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NM_002834.5(PTPN11):c.1420A>G (p.Ile474Val) AND Noonan syndrome 1

Germline classification:
Likely benign (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:
RCV004577642.2

Allele description [Variation Report for NM_002834.5(PTPN11):c.1420A>G (p.Ile474Val)]

NM_002834.5(PTPN11):c.1420A>G (p.Ile474Val)

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.1420A>G (p.Ile474Val)
HGVS:
  • NC_000012.12:g.112488483A>G
  • NG_007459.1:g.74752A>G
  • NM_001330437.2:c.1432A>G
  • NM_001374625.1:c.1417A>G
  • NM_002834.5:c.1420A>GMANE SELECT
  • NP_001317366.1:p.Ile478Val
  • NP_001361554.1:p.Ile473Val
  • NP_002825.3:p.Ile474Val
  • NP_002825.3:p.Ile474Val
  • LRG_614t1:c.1420A>G
  • LRG_614:g.74752A>G
  • LRG_614p1:p.Ile474Val
  • NC_000012.11:g.112926287A>G
  • NM_002834.3:c.1420A>G
Protein change:
I473V
Molecular consequence:
  • NM_001330437.2:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374625.1:c.1417A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002834.5:c.1420A>G - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005061490Dr.Nikuei Genetic Center
no assertion criteria provided
Likely benigngermlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Dr.Nikuei Genetic Center, SCV005061490.1

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

Last Updated: Jul 7, 2024