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NC_000022.11:g.(?_29603989)_(29604122_?)del AND Neurofibromatosis, type 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 8, 2019
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:
RCV000819228.2

Allele description

NC_000022.11:g.(?_29603989)_(29604122_?)del

Gene:
NF2:NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
22q12.2
Genomic location:
Preferred name:
NC_000022.11:g.(?_29603989)_(29604122_?)del
HGVS:
  • NC_000022.11:g.(?_29603989)_(29604122_?)del
  • NC_000022.10:g.(?_29999978)_(30000111_?)del

Condition(s)

Name:
Neurofibromatosis, type 2 (SWNV)
Synonyms:
NF 2; Neurofibromatosis central type; Acoustic schwannomas bilateral; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007039; MedGen: C0027832; Orphanet: 637; OMIM: 101000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000959875Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jun 8, 2019) 		germlineclinical testing

PubMed (3)
[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

Screening for large mutations of the NF2 gene.

Kluwe L, Nygren AO, Errami A, Heinrich B, Matthies C, Tatagiba M, Mautner V.

Genes Chromosomes Cancer. 2005 Apr;42(4):384-91.

PubMed [citation]
PMID:
15645494

Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring.

Moyhuddin A, Baser ME, Watson C, Purcell S, Ramsden RT, Heiberg A, Wallace AJ, Evans DG.

J Med Genet. 2003 Jun;40(6):459-63. No abstract available.

PubMed [citation]
PMID:
12807969
PMCID:
PMC1735486
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV000959875.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant is a gross deletion of the genomic region encompassing exon 1 of the NF2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the NF2 gene. This is expected to result in an absent or disrupted protein product. Similar gross deletions involving the initiator codon have been observed in individuals affected with neurofibromatosis type 2 (PMID: 12807969, 15645494, Invitae). Loss-of-function variants in NF2 are known to be pathogenic (PMID: 9643284, 16983642). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Aug 5, 2023