NM_000268.4(NF2):c.447+15_447+17del AND Neurofibromatosis, type 2

Germline classification:: Likely benign (1 submission)
Last evaluated:: Nov 19, 2023
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:: RCV001412162.14

Allele description [Variation Report for NM_000268.4(NF2):c.447+15_447+17del]

NM_000268.4(NF2):c.447+15_447+17del

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.447+15_447+17del

HGVS:

NC_000022.11:g.29642297GAA[1]
NG_009057.1:g.43742GAA[1]
NM_000268.4:c.447+15_447+17delMANE SELECT
NM_016418.5:c.447+15_447+17del
NM_181825.3:c.447+15_447+17del
NM_181828.3:c.321+15_321+17del
NM_181829.3:c.324+15_324+17del
NM_181830.3:c.198+15_198+17del
NM_181831.3:c.198+15_198+17del
NM_181832.3:c.447+15_447+17del
NM_181833.3:c.447+15_447+17del
LRG_511t2:c.447+15_447+17del
LRG_511:g.43742GAA[1]
NC_000022.10:g.30038284_30038286del
NC_000022.10:g.30038286GAA[1]
NM_000268.3:c.447+15_447+17delGAA

Links:

dbSNP: rs1555988797

NCBI 1000 Genomes Browser:

rs1555988797

Molecular consequence:

NM_000268.4:c.447+15_447+17del - intron variant - [Sequence Ontology: SO:0001627]
NM_016418.5:c.447+15_447+17del - intron variant - [Sequence Ontology: SO:0001627]
NM_181825.3:c.447+15_447+17del - intron variant - [Sequence Ontology: SO:0001627]
NM_181828.3:c.321+15_321+17del - intron variant - [Sequence Ontology: SO:0001627]
NM_181829.3:c.324+15_324+17del - intron variant - [Sequence Ontology: SO:0001627]
NM_181830.3:c.198+15_198+17del - intron variant - [Sequence Ontology: SO:0001627]
NM_181831.3:c.198+15_198+17del - intron variant - [Sequence Ontology: SO:0001627]
NM_181832.3:c.447+15_447+17del - intron variant - [Sequence Ontology: SO:0001627]
NM_181833.3:c.447+15_447+17del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001614240	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Nov 19, 2023)	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

SCV001614240

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Nov 19, 2023)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV001614240.5

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 20, 2024

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