NM_000268.4(NF2):c.1737+2098A>G AND Neurofibromatosis, type 2

Clinical significance:Uncertain significance (Last evaluated: Dec 19, 2015)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000415693.1

Allele description [Variation Report for NM_000268.4(NF2):c.1737+2098A>G]

NM_000268.4(NF2):c.1737+2098A>G

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+2098A>G
HGVS:
  • NC_000022.11:g.29683699A>G
  • NG_009057.1:g.85144A>G
  • NM_000268.4:c.1737+2098A>GMANE SELECT
  • NM_016418.5:c.*9+635A>G
  • NM_181825.3:c.*644A>G
  • NM_181828.3:c.*9+635A>G
  • NM_181829.3:c.*9+635A>G
  • NM_181830.3:c.*9+635A>G
  • NM_181831.3:c.*10-2A>G
  • NM_181832.3:c.*24+620A>G
  • NM_181833.3:c.448-11053A>G
  • LRG_511t2:c.*9+635A>G
  • LRG_511:g.85144A>G
  • NC_000022.10:g.30079688A>G
  • NM_181825.2:c.*644A>G
Links:
dbSNP: rs75296199
NCBI 1000 Genomes Browser:
rs75296199
Molecular consequence:
  • NM_181825.3:c.*644A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000268.4:c.1737+2098A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_016418.5:c.*9+635A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181828.3:c.*9+635A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181829.3:c.*9+635A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181830.3:c.*9+635A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181832.3:c.*24+620A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181833.3:c.448-11053A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181831.3:c.*10-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV000493776Knight Diagnostic Laboratories, Oregon Health and Sciences University - CSER-NextGenno assertion criteria provided
Uncertain significance
(Dec 19, 2015)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Knight Diagnostic Laboratories, Oregon Health and Sciences University - CSER-NextGen, SCV000493776.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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