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NM_002834.5(PTPN11):c.217_218delinsCT (p.Thr73Leu) AND Noonan syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 14, 2023
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:
RCV003996327.1

Allele description [Variation Report for NM_002834.5(PTPN11):c.217_218delinsCT (p.Thr73Leu)]

NM_002834.5(PTPN11):c.217_218delinsCT (p.Thr73Leu)

Gene:
PTPN11:protein tyrosine phosphatase non-receptor type 11 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
12q24.13
Genomic location:
Preferred name:
NM_002834.5(PTPN11):c.217_218delinsCT (p.Thr73Leu)
HGVS:
  • NC_000012.12:g.112450397_112450398delinsCT
  • NG_007459.1:g.36666_36667delinsCT
  • NM_001330437.2:c.217_218delinsCT
  • NM_001374625.1:c.214_215delinsCT
  • NM_002834.5:c.217_218delinsCTMANE SELECT
  • NM_080601.3:c.217_218delinsCT
  • NP_001317366.1:p.Thr73Leu
  • NP_001361554.1:p.Thr72Leu
  • NP_002825.3:p.Thr73Leu
  • NP_542168.1:p.Thr73Leu
  • LRG_614:g.36666_36667delinsCT
  • NC_000012.11:g.112888201_112888202delinsCT
  • NM_002834.5:c.217_218delinsCT
  • c.217_218delinsCT
Protein change:
T72L
Links:
dbSNP: rs397516802
NCBI 1000 Genomes Browser:
rs397516802

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
SCV004847130Genomic Medicine Lab, University of California San Francisco
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 14, 2023) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genomic Medicine Lab, University of California San Francisco, SCV004847130.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 20, 2024