NM_000268.4(NF2):c.1113C>G (p.Asn371Lys) AND Neurofibromatosis, type 2

Clinical significance:Uncertain significance (Last evaluated: Jul 2, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000709609.1

Allele description [Variation Report for NM_000268.4(NF2):c.1113C>G (p.Asn371Lys)]

NM_000268.4(NF2):c.1113C>G (p.Asn371Lys)

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.1113C>G (p.Asn371Lys)
HGVS:
  • NC_000022.11:g.29671939C>G
  • NG_009057.1:g.73384C>G
  • NM_000268.4:c.1113C>GMANE SELECT
  • NM_016418.5:c.1113C>G
  • NM_181825.3:c.1113C>G
  • NM_181828.3:c.987C>G
  • NM_181829.3:c.990C>G
  • NM_181830.3:c.864C>G
  • NM_181831.3:c.864C>G
  • NM_181832.3:c.1113C>G
  • NM_181833.3:c.448-22813C>G
  • NP_000259.1:p.Asn371Lys
  • NP_057502.2:p.Asn371Lys
  • NP_861546.1:p.Asn371Lys
  • NP_861966.1:p.Asn329Lys
  • NP_861967.1:p.Asn330Lys
  • NP_861968.1:p.Asn288Lys
  • NP_861969.1:p.Asn288Lys
  • NP_861970.1:p.Asn371Lys
  • LRG_511t2:c.1113C>G
  • LRG_511:g.73384C>G
  • LRG_511p2:p.Asn371Lys
  • NC_000022.10:g.30067928C>G
  • NR_156186.2:n.1595C>G
Protein change:
N288K
Links:
dbSNP: rs142459414
NCBI 1000 Genomes Browser:
rs142459414
Molecular consequence:
  • NM_181833.3:c.448-22813C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000268.4:c.1113C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016418.5:c.1113C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181825.3:c.1113C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181828.3:c.987C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181829.3:c.990C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181830.3:c.864C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181831.3:c.864C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181832.3:c.1113C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_156186.2:n.1595C>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
SCV000839520Mendelicscriteria provided, single submitter
Uncertain significance
(Jul 2, 2018)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mendelics, SCV000839520.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

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