NC_000017.10:g.(?_29421944)_(29704696_?)del AND Neurofibromatosis, type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 10, 2024
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV004783318.1

Allele description [Variation Report for NC_000017.10:g.(?_29421944)_(29704696_?)del]

NC_000017.10:g.(?_29421944)_(29704696_?)del

Genes:: EVI2A:ecotropic viral integration site 2A [Gene - OMIM - HGNC]
EVI2B:ecotropic viral integration site 2B [Gene - OMIM - HGNC]
NF1:neurofibromin 1 [Gene - OMIM - HGNC]
OMG:oligodendrocyte myelin glycoprotein [Gene - OMIM - HGNC]
Variant type:: Deletion
Cytogenetic location:: 17q11.2
Genomic location:: Chr17: 29421944 - 29704696 (on Assembly GRCh37)
Preferred name:: NC_000017.10:g.(?_29421944)_(29704696_?)del
HGVS:: NC_000017.10:g.(?_29421944)_(29704696_?)del
This HGVS expression did not pass validation

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005394986	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Pathogenic (Sep 10, 2024)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 23460398, 15257518, 9643287, 27069254, 29992513 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005394986

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Pathogenic
(Sep 10, 2024)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Neurofibromatosis-1 gene deletions and mutations in de novo adult acute myeloid leukemia.

Boudry-Labis E, Roche-Lestienne C, Nibourel O, Boissel N, Terre C, Perot C, Eclache V, Gachard N, Tigaud I, Plessis G, Cuccuini W, Geffroy S, Villenet C, Figeac M, Leprêtre F, Renneville A, Cheok M, Soulier J, Dombret H, Preudhomme C; French ALFA group.

Am J Hematol. 2013 Apr;88(4):306-11. doi: 10.1002/ajh.23403. Epub 2013 Mar 5.

PubMed [citation]

PMID:: 23460398

High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene.

Kehrer-Sawatzki H, Kluwe L, Sandig C, Kohn M, Wimmer K, Krammer U, Peyrl A, Jenne DE, Hansmann I, Mautner VF.

Am J Hum Genet. 2004 Sep;75(3):410-23. Epub 2004 Jul 15.

PubMed [citation]

PMID:: 15257518
PMCID:: PMC1182020

See all PubMed Citations (5)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005394986.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

Variant summary: The variant involves the deletion of exons 1-57 of the NF1 gene. A presumed nomenclature of c.(?_-384)_(*3523_?)del has been designated for the purposes of this classification. This deletion includes the entire coding sequence of the gene. As the exact proximal and distal breakpoints are unknown, it may extend beyond the annotated region of the gene to include other flanking genes. A large deletion that includes the NF1 gene was found at a frequency of 3.3e-05 in 119412 control chromosomes in the gnomAD database (Structural Variants v4.1 dataset). Large deletions that include the entire NF1 gene have been reported in the literature in numerous individuals affected with Neurofibromatosis Type 1 (e.g. Rasmussen_1998, Kehrer-Sawatzki_2004, Summerer_2018). The following publications have been ascertained in the context of this evaluation (PMID: 15257518, 9643287, 29992513). ClinVar contains an entry for this variant (Variation ID: 832492). Based on the evidence outlined above, the variant was classified as pathogenic.

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

Last Updated: Nov 18, 2024

ClinVar

Relating variation to medicine