NM_000268.4(NF2):c.319_325delinsTAGGATA (p.Glu107_Leu109delinsTer) AND Neurofibromatosis, type 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 19, 2020
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:: RCV001245794.3

Allele description [Variation Report for NM_000268.4(NF2):c.319_325delinsTAGGATA (p.Glu107_Leu109delinsTer)]

NM_000268.4(NF2):c.319_325delinsTAGGATA (p.Glu107_Leu109delinsTer)

Gene:

NF2:NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

22q12.2

Genomic location:

Preferred name:

NM_000268.4(NF2):c.319_325delinsTAGGATA (p.Glu107_Leu109delinsTer)

HGVS:

NC_000022.11:g.29639168_29639174delinsTAGGATA
NG_009057.1:g.40613_40619delinsTAGGATA
NM_000268.4:c.319_325delinsTAGGATAMANE SELECT
NM_016418.5:c.319_325delinsTAGGATA
NM_181825.3:c.319_325delinsTAGGATA
NM_181828.3:c.193_199delinsTAGGATA
NM_181829.3:c.240+2292_240+2298delinsTAGGATA
NM_181830.3:c.115-3034_115-3028delinsTAGGATA
NM_181831.3:c.115-3034_115-3028delinsTAGGATA
NM_181832.3:c.319_325delinsTAGGATA
NM_181833.3:c.319_325delinsTAGGATA
NP_000259.1:p.Glu107_Leu109delinsTer
NP_057502.2:p.Glu107_Leu109delinsTer
NP_861546.1:p.Glu107_Leu109delinsTer
NP_861966.1:p.Glu65_Leu67delinsTer
NP_861970.1:p.Glu107_Leu109delinsTer
NP_861971.1:p.Glu107_Leu109delinsTer
LRG_511t1:c.319_325delinsTAGGATA
LRG_511t2:c.319_325delinsTAGGATA
LRG_511:g.40613_40619delinsTAGGATA
LRG_511p2:p.Glu107_Leu109delinsTer
NC_000022.10:g.30035157_30035163delinsTAGGATA
NC_000022.10:g.30035157_30035163delinsTAGGATA
NM_000268.3:c.319_325delinsTAGGATA
NR_156186.2:n.801_807delinsTAGGATA

Links:

dbSNP: rs2065731800

NCBI 1000 Genomes Browser:

rs2065731800

Molecular consequence:

NM_181829.3:c.240+2292_240+2298delinsTAGGATA - intron variant - [Sequence Ontology: SO:0001627]
NM_181830.3:c.115-3034_115-3028delinsTAGGATA - intron variant - [Sequence Ontology: SO:0001627]
NM_181831.3:c.115-3034_115-3028delinsTAGGATA - intron variant - [Sequence Ontology: SO:0001627]
NR_156186.2:n.801_807delinsTAGGATA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000268.4:c.319_325delinsTAGGATA - nonsense - [Sequence Ontology: SO:0001587]
NM_016418.5:c.319_325delinsTAGGATA - nonsense - [Sequence Ontology: SO:0001587]
NM_181825.3:c.319_325delinsTAGGATA - nonsense - [Sequence Ontology: SO:0001587]
NM_181828.3:c.193_199delinsTAGGATA - nonsense - [Sequence Ontology: SO:0001587]
NM_181832.3:c.319_325delinsTAGGATA - nonsense - [Sequence Ontology: SO:0001587]
NM_181833.3:c.319_325delinsTAGGATA - nonsense - [Sequence Ontology: SO:0001587]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001419104	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Sep 19, 2020)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 9643284, 16983642, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001419104

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Sep 19, 2020)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.

Evans DG, Trueman L, Wallace A, Collins S, Strachan T.

J Med Genet. 1998 Jun;35(6):450-5. Erratum in: J Med Genet 1999 Jan;36(1):87.

PubMed [citation]

PMID:: 9643284
PMCID:: PMC1051337

Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings.

Ahronowitz I, Xin W, Kiely R, Sims K, MacCollin M, Nunes FP.

Hum Mutat. 2007 Jan;28(1):1-12.

PubMed [citation]

PMID:: 16983642

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001419104.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NF2 are known to be pathogenic (PMID: 9643284, 16983642). This variant has not been reported in the literature in individuals with NF2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu107*) in the NF2 gene. It is expected to result in an absent or disrupted protein product.

#	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: Feb 20, 2024

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