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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001760401	Genomics England Pilot Project, Genomics England	no assertion criteria provided (ACGS Guidelines, 2016)	Pathogenic	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001760401

Genomics England Pilot Project, Genomics England

no assertion criteria provided

(ACGS Guidelines, 2016)

Pathogenic

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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