NM_000268.4(NF2):c.1237A>G (p.Lys413Glu) AND Neurofibromatosis, type 2

Clinical significance:Uncertain significance (Last evaluated: Aug 4, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001348048.1

Allele description [Variation Report for NM_000268.4(NF2):c.1237A>G (p.Lys413Glu)]

NM_000268.4(NF2):c.1237A>G (p.Lys413Glu)

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.1237A>G (p.Lys413Glu)
HGVS:
  • NC_000022.11:g.29673383A>G
  • NG_009057.1:g.74828A>G
  • NM_000268.4:c.1237A>GMANE SELECT
  • NM_016418.5:c.1237A>G
  • NM_181825.3:c.1237A>G
  • NM_181828.3:c.1111A>G
  • NM_181829.3:c.1114A>G
  • NM_181830.3:c.988A>G
  • NM_181831.3:c.988A>G
  • NM_181832.3:c.1237A>G
  • NM_181833.3:c.448-21369A>G
  • NP_000259.1:p.Lys413Glu
  • NP_057502.2:p.Lys413Glu
  • NP_861546.1:p.Lys413Glu
  • NP_861966.1:p.Lys371Glu
  • NP_861967.1:p.Lys372Glu
  • NP_861968.1:p.Lys330Glu
  • NP_861969.1:p.Lys330Glu
  • NP_861970.1:p.Lys413Glu
  • LRG_511t2:c.1237A>G
  • LRG_511:g.74828A>G
  • LRG_511p2:p.Lys413Glu
  • NC_000022.10:g.30069372A>G
  • NR_156186.2:n.1719A>G
Protein change:
K330E
Links:
dbSNP: rs766974263
NCBI 1000 Genomes Browser:
rs766974263
Molecular consequence:
  • NM_181833.3:c.448-21369A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000268.4:c.1237A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016418.5:c.1237A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181825.3:c.1237A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181828.3:c.1111A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181829.3:c.1114A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181830.3:c.988A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181831.3:c.988A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181832.3:c.1237A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_156186.2:n.1719A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Neurofibromatosis, type 2 (NF2)
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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001542335Invitaecriteria provided, single submitter
Uncertain significance
(Aug 4, 2020)
germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Eleven novel mutations in the NF2 tumour suppressor gene.

Bourn D, Evans G, Mason S, Tekes S, Trueman L, Strachan T.

Hum Genet. 1995 May;95(5):572-4.

PubMed [citation]
PMID:
7759081
See all PubMed Citations (7)

Details of each submission

From Invitae, SCV001542335.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

This sequence change replaces lysine with glutamic acid at codon 413 of the NF2 protein (p.Lys413Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs766974263, ExAC 0.02%). This variant has been observed in individual(s) with clinical features of neurofibromatosis type 2 (PMID: 7759081). This variant has been reported to have conflicting or insufficient data to determine the effect on NF2 protein function (PMID: 11535133, 24309211, 24595234, 9931334, 9466988). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Nov 27, 2021

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