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NM_001042492.3(NF1):c.4597del (p.Arg1533fs) AND Neurofibromatosis-Noonan syndrome

Germline classification:
Pathogenic (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:
RCV001542606.2

Allele description [Variation Report for NM_001042492.3(NF1):c.4597del (p.Arg1533fs)]

NM_001042492.3(NF1):c.4597del (p.Arg1533fs)

Gene:
NF1:neurofibromin 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
NM_001042492.3(NF1):c.4597del (p.Arg1533fs)
HGVS:
  • NC_000017.11:g.31261730del
  • NG_009018.1:g.171754del
  • NM_000267.3:c.4534del
  • NM_001042492.3:c.4597delMANE SELECT
  • NP_000258.1:p.Arg1512fs
  • NP_001035957.1:p.Arg1533fs
  • LRG_214t1:c.4534del
  • LRG_214:g.171754del
  • LRG_214p1:p.Arg1512fs
  • NC_000017.10:g.29588748del
Protein change:
R1512fs
Links:
dbSNP: rs2151466235
NCBI 1000 Genomes Browser:
rs2151466235
Molecular consequence:
  • NM_000267.3:c.4534del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001042492.3:c.4597del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001760401Genomics England Pilot Project, Genomics England
no assertion criteria provided

(ACGS Guidelines, 2016)		Pathogenicgermlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Genomics England Pilot Project, Genomics England, SCV001760401.1

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

Last Updated: Dec 24, 2023