NM_000268.4(NF2):c.1737+1432G>A 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:
RCV000709611.1

Allele description [Variation Report for NM_000268.4(NF2):c.1737+1432G>A]

NM_000268.4(NF2):c.1737+1432G>A

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.1737+1432G>A
HGVS:
  • NC_000022.11:g.29683033G>A
  • NG_009057.1:g.84478G>A
  • NM_000268.4:c.1737+1432G>AMANE SELECT
  • NM_016418.5:c.1751G>A
  • NM_181825.3:c.1751G>A
  • NM_181828.3:c.1625G>A
  • NM_181829.3:c.1628G>A
  • NM_181830.3:c.1502G>A
  • NM_181831.3:c.1502G>A
  • NM_181832.3:c.1751G>A
  • NM_181833.3:c.448-11719G>A
  • NP_057502.2:p.Gly584Asp
  • NP_861546.1:p.Gly584Asp
  • NP_861966.1:p.Gly542Asp
  • NP_861967.1:p.Gly543Asp
  • NP_861968.1:p.Gly501Asp
  • NP_861969.1:p.Gly501Asp
  • NP_861970.1:p.Gly584Asp
  • LRG_511t2:c.1751G>A
  • LRG_511:g.84478G>A
  • LRG_511p2:p.Gly584Asp
  • NC_000022.10:g.30079022G>A
Protein change:
G501D
Links:
dbSNP: rs746764835
NCBI 1000 Genomes Browser:
rs746764835
Molecular consequence:
  • NM_000268.4:c.1737+1432G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181833.3:c.448-11719G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_016418.5:c.1751G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181825.3:c.1751G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181828.3:c.1625G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181829.3:c.1628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181830.3:c.1502G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181831.3:c.1502G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181832.3:c.1751G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000839529Mendelicscriteria 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, SCV000839529.1

#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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