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NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del) AND Neurofibromatosis-Noonan syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 15, 2003
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:
RCV000000394.3

Allele description [Variation Report for NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del)]

NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del)

Gene:
NF1:neurofibromin 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del)
HGVS:
  • NC_000017.11:g.31259071GAA[1]
  • NG_009018.1:g.169095GAA[1]
  • NM_000267.3:c.4309GAA[1]
  • NM_001042492.3:c.4372GAA[1]MANE SELECT
  • NP_000258.1:p.Glu1438del
  • NP_001035957.1:p.Glu1459del
  • LRG_214t1:c.4309GAA[1]
  • LRG_214:g.169095GAA[1]
  • LRG_214p1:p.Glu1438del
  • NC_000017.10:g.29586087_29586089del
  • NC_000017.10:g.29586089GAA[1]
  • NM_000267.3:c.4312_4314del
  • NM_000267.3:c.4312_4314delGAA
  • NM_001042492.2:c.4375_4377delGAA
Protein change:
E1438del
Links:
OMIM: 613113.0034; dbSNP: rs267606607
NCBI 1000 Genomes Browser:
rs267606607
Molecular consequence:
  • NM_000267.3:c.4309GAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001042492.3:c.4372GAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Neurofibromatosis-Noonan syndrome (NFNS)
Synonyms:
Neurofibromatosis with Noonan phenotype
Identifiers:
MONDO: MONDO:0011035; MedGen: C2931482; Orphanet: 638; OMIM: 601321

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000020538OMIM
no assertion criteria provided
Pathogenic
(May 15, 2003) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS).

Baralle D, Mattocks C, Kalidas K, Elmslie F, Whittaker J, Lees M, Ragge N, Patton MA, Winter RM, ffrench-Constant C.

Am J Med Genet A. 2003 May 15;119A(1):1-8.

PubMed [citation]
PMID:
12707950

Details of each submission

From OMIM, SCV000020538.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with neurofibromatosis-Noonan syndrome (NFNS; 601321), Baralle et al. (2003) identified a 3-bp deletion, 4312delGAA, in exon 25 of the NF1 gene. The patient was a 6-year-old boy with more than 6 cafe-au-lait macules. There were no other features of neurofibromatosis type I, but his mother had a single cafe-au-lait macule and Lisch nodules, low hairline, and short neck. He had ptosis, epicanthal folds, low posterior hairline, and low-set ears. On echocardiogram he had pulmonic stenosis. No neurofibromas were present.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 10, 2024