NM_000268.4(NF2):c.560_561del (p.Arg187fs) AND Neurofibromatosis, type 2

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 1, 2016
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:: RCV000660133.1

Allele description [Variation Report for NM_000268.4(NF2):c.560_561del (p.Arg187fs)]

NM_000268.4(NF2):c.560_561del (p.Arg187fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

22q12.2

Genomic location:

Preferred name:

NM_000268.4(NF2):c.560_561del (p.Arg187fs)

HGVS:

NC_000022.11:g.29655633GA[2]
NG_009057.1:g.57078GA[2]
NM_000268.4:c.560_561delMANE SELECT
NM_016418.5:c.560_561del
NM_181825.3:c.560_561del
NM_181828.3:c.434_435del
NM_181829.3:c.437_438del
NM_181830.3:c.311_312del
NM_181831.3:c.311_312del
NM_181832.3:c.560_561del
NM_181833.3:c.447+13348GA[2]
NP_000259.1:p.Arg187fs
NP_057502.2:p.Arg187fs
NP_861546.1:p.Arg187fs
NP_861966.1:p.Arg145fs
NP_861967.1:p.Arg146fs
NP_861968.1:p.Arg104fs
NP_861969.1:p.Arg104fs
NP_861970.1:p.Arg187fs
LRG_511t2:c.560_561del
LRG_511:g.57078GA[2]
LRG_511p2:p.Arg187fs
NC_000022.10:g.30051622GA[2]
NM_000268.3:c.560_561delGA
NR_156186.2:n.1038GA[2]

Protein change:

R104fs

Links:

dbSNP: rs1555993301

NCBI 1000 Genomes Browser:

rs1555993301

Molecular consequence:

NM_000268.4:c.560_561del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_016418.5:c.560_561del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_181825.3:c.560_561del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_181828.3:c.434_435del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_181829.3:c.437_438del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_181830.3:c.311_312del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_181831.3:c.311_312del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_181832.3:c.560_561del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_181833.3:c.447+13348GA[2] - intron variant - [Sequence Ontology: SO:0001627]
NR_156186.2:n.1038GA[2] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000782124	Center for Human Genetics, Inc, Center for Human Genetics, Inc	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Nov 1, 2016)	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

SCV000782124

Center for Human Genetics, Inc, Center for Human Genetics, Inc

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Nov 1, 2016)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 Center for Human Genetics, Inc, Center for Human Genetics, Inc, SCV000782124.1

#	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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