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NC_000017.10:g.(?_29585342)_(29665843_?)del AND Neurofibromatosis, type 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 28, 2021
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:
RCV001949410.7

Allele description [Variation Report for NC_000017.10:g.(?_29585342)_(29665843_?)del]

NC_000017.10:g.(?_29585342)_(29665843_?)del

Genes:
EVI2A:ecotropic viral integration site 2A [Gene - OMIM - HGNC]
EVI2B:ecotropic viral integration site 2B [Gene - OMIM - HGNC]
OMG:oligodendrocyte myelin glycoprotein [Gene - OMIM - HGNC]
NF1:neurofibromin 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q11.2
Genomic location:
Chr17: 29585342 - 29665843 (on Assembly GRCh37)
Preferred name:
NC_000017.10:g.(?_29585342)_(29665843_?)del
HGVS:
NC_000017.10:g.(?_29585342)_(29665843_?)del

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002239047Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 28, 2021) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Somatic mutations in the neurofibromatosis 1 gene in human tumors.

Li Y, Bollag G, Clark R, Stevens J, Conroy L, Fults D, Ward K, Friedman E, Samowitz W, Robertson M, et al.

Cell. 1992 Apr 17;69(2):275-81.

PubMed [citation]
PMID:
1568247

NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.

Kluwe L, Friedrich RE, Korf B, Fahsold R, Mautner VF.

Hum Mutat. 2002 Mar;19(3):309.

PubMed [citation]
PMID:
11857752
See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002239047.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This variant disrupts the p.Lys1423 amino acid residue in NF1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 1568247, 11857752, 23244495, 16786508, 27322474). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with clinical features of NF1 (Invitae). This variant is a gross deletion of the genomic region encompassing exon(s) 31-45 of the NF1 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024