NM_000268.4(NF2):c.-142del 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:
RCV000709604.1

Allele description [Variation Report for NM_000268.4(NF2):c.-142del]

NM_000268.4(NF2):c.-142del

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.-142del
HGVS:
  • NC_000022.11:g.29603857del
  • NG_009057.1:g.5302del
  • NM_000268.4:c.-142delMANE SELECT
  • NM_016418.5:c.-142del
  • NM_181825.3:c.-142del
  • NM_181828.3:c.-142del
  • NM_181829.3:c.-142del
  • NM_181830.3:c.-142del
  • NM_181831.3:c.-142del
  • NM_181832.3:c.-142del
  • NM_181833.3:c.-142del
  • LRG_511t2:c.-142del
  • LRG_511:g.5302del
  • NC_000022.10:g.29999843delG
  • NC_000022.10:g.29999846del
  • NR_156186.2:n.225del
Links:
dbSNP: rs1569259403
NCBI 1000 Genomes Browser:
rs1569259403
Molecular consequence:
  • NM_000268.4:c.-142del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_016418.5:c.-142del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_181825.3:c.-142del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_181828.3:c.-142del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_181829.3:c.-142del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_181830.3:c.-142del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_181831.3:c.-142del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_181832.3:c.-142del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_181833.3:c.-142del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_156186.2:n.225del - 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
SCV000839510Mendelicscriteria 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, SCV000839510.1

#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: Nov 27, 2021

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