NM_000267.3(NF1):c.289-1237_586+3325del AND Neurofibromatosis, type 1

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:: RCV000200949.2

Allele description [Variation Report for NM_000267.3(NF1):c.289-1237_586+3325del]

NM_000267.3(NF1):c.289-1237_586+3325del

Genes:

LOC108281180:NF1 intron 3 Alu-mediated recombination region [Gene]
NF1:neurofibromin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q11.2

Genomic location:

Preferred name:

NM_000267.3(NF1):c.289-1237_586+3325del

HGVS:

NC_000017.11:g.31161949_31173322del
NM_000267.3:c.289-1237_586+3325del
LRG_214t1:c.289-1237_586+3325del
NC_000017.10:g.29488967_29500340del

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
SCV000255522	Medical Genomics Laboratory, Department of Genetics UAB	no assertion criteria provided	Pathogenic	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000255522

Medical Genomics Laboratory, Department of Genetics UAB

no assertion criteria provided

Pathogenic

germline

clinical testing

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

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

Citations

PubMed

Decoding NF1 Intragenic Copy-Number Variations.

Hsiao MC, Piotrowski A, Callens T, Fu C, Wimmer K, Claes KB, Messiaen L.

Am J Hum Genet. 2015 Aug 6;97(2):238-49. doi: 10.1016/j.ajhg.2015.06.002. Epub 2015 Jul 16.

PubMed [citation]

PMID:: 26189818
PMCID:: PMC4573439

Details of each submission

From Medical Genomics Laboratory, Department of Genetics UAB, SCV000255522.1

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

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

Last Updated: Jun 10, 2023

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Relating variation to medicine