NM_001042492.3(NF1):c.1324_1325del (p.Met442fs) AND Neurofibromatosis, type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 2, 2017
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:: RCV000497218.1

Allele description [Variation Report for NM_001042492.3(NF1):c.1324_1325del (p.Met442fs)]

NM_001042492.3(NF1):c.1324_1325del (p.Met442fs)

Gene:

NF1:neurofibromin 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

17q11.2

Genomic location:

Preferred name:

NM_001042492.3(NF1):c.1324_1325del (p.Met442fs)

HGVS:

NC_000017.11:g.31206301AT[1]
NG_009018.1:g.116325AT[1]
NM_000267.3:c.1324_1325del
NM_001042492.3:c.1324_1325delMANE SELECT
NM_001128147.3:c.1324_1325del
NP_000258.1:p.Met442fs
NP_001035957.1:p.Met442fs
NP_001121619.1:p.Met442fs
LRG_214t1:c.1324_1325del
LRG_214:g.116325AT[1]
LRG_214p1:p.Met442fs
NC_000017.10:g.29533319AT[1]
NM_001042492.2:c.1324_1325del

Protein change:

M442fs

Links:

dbSNP: rs1135402805

NCBI 1000 Genomes Browser:

rs1135402805

Molecular consequence:

NM_000267.3:c.1324_1325del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001042492.3:c.1324_1325del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001128147.3:c.1324_1325del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Neurofibromatosis, type 1 (NF1)
Synonyms:: NEUROFIBROMATOSIS, TYPE I; Recklinghausen's disease; Von Recklinghausen disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0018975; MedGen: C0027831; Orphanet: 636; OMIM: 162200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000588714	Medical Genetics, University of Parma	no assertion criteria provided	Pathogenic (Feb 2, 2017)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000588714

Medical Genetics, University of Parma

no assertion criteria provided

Pathogenic
(Feb 2, 2017)

germline

clinical testing

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 Medical Genetics, University of Parma, SCV000588714.1

#	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: Apr 23, 2022

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