NM_000268.4(NF2):c.1521del (p.Phe507fs) AND Neurofibromatosis, type 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 27, 2022
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:: RCV002871726.3

Allele description [Variation Report for NM_000268.4(NF2):c.1521del (p.Phe507fs)]

NM_000268.4(NF2):c.1521del (p.Phe507fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

22q12.2

Genomic location:

Preferred name:

NM_000268.4(NF2):c.1521del (p.Phe507fs)

HGVS:

NC_000022.11:g.29678270del
NG_009057.1:g.79715del
NM_000268.4:c.1521delMANE SELECT
NM_001407053.1:c.1407delC
NM_001407054.1:c.1398delC
NM_001407055.1:c.1395delC
NM_001407056.1:c.1407delC
NM_001407057.1:c.1386delC
NM_001407058.1:c.1398delC
NM_001407059.1:c.1386delC
NM_001407060.1:c.1521delC
NM_001407062.1:c.1263delC
NM_001407063.1:c.1272delC
NM_001407064.1:c.1272delC
NM_001407065.1:c.987delC
NM_001407066.1:c.1521delC
NM_001407067.1:c.1290delC
NM_016418.5:c.1521del
NM_181825.3:c.1521del
NM_181828.3:c.1395del
NM_181829.3:c.1398del
NM_181830.3:c.1272del
NM_181831.3:c.1272del
NM_181832.3:c.1521del
NM_181833.3:c.448-16482del
NP_000259.1:p.Phe507Leufs
NP_000259.1:p.Phe507fs
NP_001393982.1:p.Phe469Leufs
NP_001393983.1:p.Phe466Leufs
NP_001393984.1:p.Phe465Leufs
NP_001393985.1:p.Phe469Leufs
NP_001393986.1:p.Phe462Leufs
NP_001393987.1:p.Phe466Leufs
NP_001393988.1:p.Phe462Leufs
NP_001393989.1:p.Phe507Leufs
NP_001393991.1:p.Phe421Leufs
NP_001393992.1:p.Phe424Leufs
NP_001393993.1:p.Phe424Leufs
NP_001393994.1:p.Phe329Leufs
NP_001393995.1:p.Phe507Leufs
NP_001393996.1:p.Phe430Leufs
NP_057502.2:p.Phe507fs
NP_861546.1:p.Phe507fs
NP_861966.1:p.Phe465fs
NP_861967.1:p.Phe466fs
NP_861968.1:p.Phe424fs
NP_861969.1:p.Phe424fs
NP_861970.1:p.Phe507fs
LRG_511t1:c.1521del
LRG_511t2:c.1521del
LRG_511:g.79715del
LRG_511p1:p.Phe507Leufs
LRG_511p2:p.Phe507fs
NC_000022.10:g.30074259del
NM_000268.3:c.1521delC
NR_156186.2:n.2003del
NR_176267.1:n.1069delC

Protein change:

F424fs

Molecular consequence:

NM_000268.4:c.1521del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407053.1:c.1407delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407054.1:c.1398delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407055.1:c.1395delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407056.1:c.1407delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407057.1:c.1386delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407058.1:c.1398delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407059.1:c.1386delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407060.1:c.1521delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407062.1:c.1263delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407063.1:c.1272delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407064.1:c.1272delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407065.1:c.987delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407066.1:c.1521delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407067.1:c.1290delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_016418.5:c.1521del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_181825.3:c.1521del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_181828.3:c.1395del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_181829.3:c.1398del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_181830.3:c.1272del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_181831.3:c.1272del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_181832.3:c.1521del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_181833.3:c.448-16482del - intron variant - [Sequence Ontology: SO:0001627]
NR_156186.2:n.2003del - 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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gi|154869395|gb|EU043934.1|

Nucleotide
2971027[uid] (1)
Taxonomy
651066[uid] (1)
Taxonomy
traB domain-containing protein isoform b [Homo sapiens]
traB domain-containing protein isoform b [Homo sapiens]
gi|1819229375|ref|NP_001365691.1|

Protein
arsenite methyltransferase isoform X2 [Mus musculus]
arsenite methyltransferase isoform X2 [Mus musculus]
gi|1720395545|ref|XP_030106865.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003234341	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Aug 27, 2022)	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

SCV003234341

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Aug 27, 2022)

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV003234341.2

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

Description

This sequence change creates a premature translational stop signal (p.Phe507Leufs*8) in the NF2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF2 are known to be pathogenic (PMID: 9643284, 16983642). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with NF2-related conditions. This variant is not present in population databases (gnomAD no frequency).

#	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: Sep 29, 2024

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