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NM_000268.4(NF2):c.1396C>T (p.Arg466Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 23, 2017
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:
RCV002390087.2

Allele description [Variation Report for NM_000268.4(NF2):c.1396C>T (p.Arg466Ter)]

NM_000268.4(NF2):c.1396C>T (p.Arg466Ter)

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.1396C>T (p.Arg466Ter)
HGVS:
  • NC_000022.11:g.29674891C>T
  • NG_009057.1:g.76336C>T
  • NM_000268.4:c.1396C>TMANE SELECT
  • NM_016418.5:c.1396C>T
  • NM_181825.3:c.1396C>T
  • NM_181828.3:c.1270C>T
  • NM_181829.3:c.1273C>T
  • NM_181830.3:c.1147C>T
  • NM_181831.3:c.1147C>T
  • NM_181832.3:c.1396C>T
  • NM_181833.3:c.448-19861C>T
  • NP_000259.1:p.Arg466Ter
  • NP_000259.1:p.Arg466Ter
  • NP_057502.2:p.Arg466Ter
  • NP_861546.1:p.Arg466Ter
  • NP_861966.1:p.Arg424Ter
  • NP_861967.1:p.Arg425Ter
  • NP_861968.1:p.Arg383Ter
  • NP_861969.1:p.Arg383Ter
  • NP_861970.1:p.Arg466Ter
  • LRG_511t1:c.1396C>T
  • LRG_511t2:c.1396C>T
  • LRG_511:g.76336C>T
  • LRG_511p1:p.Arg466Ter
  • LRG_511p2:p.Arg466Ter
  • NC_000022.10:g.30070880C>T
  • NM_000268.3:c.1396C>T
  • NM_000268.4:c.1396C>T
  • NR_156186.2:n.1878C>T
Protein change:
R383*; ARG466TER
Links:
OMIM: 607379.0014; dbSNP: rs74315504
NCBI 1000 Genomes Browser:
rs74315504
Molecular consequence:
  • NM_181833.3:c.448-19861C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NR_156186.2:n.1878C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000268.4:c.1396C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_016418.5:c.1396C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181825.3:c.1396C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181828.3:c.1270C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181829.3:c.1273C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181830.3:c.1147C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181831.3:c.1147C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181832.3:c.1396C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002697130Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Aug 23, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002697130.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.R466* pathogenic mutation (also known as c.1396C>T), located in coding exon 13 of the NF2 gene, results from a C to T substitution at nucleotide position 1396. This changes the amino acid from an arginine to a stop codon within coding exon 13. This mutation has been reported in multiple individuals with clinical features of neurofibromatosis type 2 (MacCollin M et al. Am. J. Hum. Genet. 1994 Aug;55(2):314-20; Bourn D et al. Hum. Genet. 1995 May;95(5):572-4; Parry DM et al. Am. J. Hum. Genet. 1996 Sep;59(3):529-39; Kluwe L et al. J. Med. Genet. 2003 Feb;40(2):109-14; Grant EA et al. Ophthalmic Genet. 2008 Sep;29(3):133-8; Goutagny S et al. J. Neurooncol. 2015 Apr;122(2):313-20). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024