NM_000268.4(NF2):c.1579G>T (p.Glu527Ter) AND Neurofibromatosis, type 2

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Dec 4, 2018
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:: RCV000003457.4

Allele description [Variation Report for NM_000268.4(NF2):c.1579G>T (p.Glu527Ter)]

NM_000268.4(NF2):c.1579G>T (p.Glu527Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.2

Genomic location:

Preferred name:

NM_000268.4(NF2):c.1579G>T (p.Glu527Ter)

HGVS:

NC_000022.11:g.29681443G>T
NG_009057.1:g.82888G>T
NM_000268.4:c.1579G>TMANE SELECT
NM_016418.5:c.1579G>T
NM_181825.3:c.1579G>T
NM_181828.3:c.1453G>T
NM_181829.3:c.1456G>T
NM_181830.3:c.1330G>T
NM_181831.3:c.1330G>T
NM_181832.3:c.1579G>T
NM_181833.3:c.448-13309G>T
NP_000259.1:p.Glu527Ter
NP_057502.2:p.Glu527Ter
NP_861546.1:p.Glu527Ter
NP_861966.1:p.Glu485Ter
NP_861967.1:p.Glu486Ter
NP_861968.1:p.Glu444Ter
NP_861969.1:p.Glu444Ter
NP_861970.1:p.Glu527Ter
LRG_511t1:c.1579G>T
LRG_511t2:c.1579G>T
LRG_511:g.82888G>T
LRG_511p2:p.Glu527Ter
NC_000022.10:g.30077432G>T
NM_000268.3:c.1579G>T
NR_156186.2:n.2061G>T
p.(Glu527*)

Protein change:

E444*; GLU527TER

Links:

OMIM: 607379.0015; dbSNP: rs74315505

NCBI 1000 Genomes Browser:

rs74315505

Molecular consequence:

NM_181833.3:c.448-13309G>T - intron variant - [Sequence Ontology: SO:0001627]
NR_156186.2:n.2061G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000268.4:c.1579G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_016418.5:c.1579G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_181825.3:c.1579G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_181828.3:c.1453G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_181829.3:c.1456G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_181830.3:c.1330G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_181831.3:c.1330G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_181832.3:c.1579G>T - 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
SCV000023615	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 1994)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV001739314	Center of Genomic medicine, Geneva, University Hospital of Geneva	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 4, 2018)	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

SCV000023615

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 1994)

germline

literature only

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

SCV001739314

Center of Genomic medicine, Geneva, University Hospital of Geneva

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 4, 2018)

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutational analysis of patients with neurofibromatosis 2.

MacCollin M, Ramesh V, Jacoby LB, Louis DN, Rubio MP, Pulaski K, Trofatter JA, Short MP, Bove C, Eldridge R, et al.

Am J Hum Genet. 1994 Aug;55(2):314-20.

PubMed [citation]

PMID:: 7913580
PMCID:: PMC1918355

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From OMIM, SCV000023615.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a study of 33 unrelated patients diagnosed with neurofibromatosis type II (SWNV; 101000), MacCollin et al. (1994) identified a G-to-T substitution at nucleotide 1579 in exon 15 of the NF2 gene, resulting in a stop codon at position 527.

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

From Center of Genomic medicine, Geneva, University Hospital of Geneva, SCV001739314.1

#	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	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 5, 2023

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