NM_000268.4(NF2):c.676-2A>G AND Neurofibromatosis, type 2

Clinical significance:Pathogenic (Last evaluated: Jun 25, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000468441.1

Allele description [Variation Report for NM_000268.4(NF2):c.676-2A>G]

NM_000268.4(NF2):c.676-2A>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.676-2A>G
HGVS:
  • NC_000022.11:g.29661203A>G
  • NG_009057.1:g.62648A>G
  • NM_000268.4:c.676-2A>GMANE SELECT
  • NM_016418.5:c.676-2A>G
  • NM_181825.3:c.676-2A>G
  • NM_181828.3:c.550-2A>G
  • NM_181829.3:c.553-2A>G
  • NM_181830.3:c.427-2A>G
  • NM_181831.3:c.427-2A>G
  • NM_181832.3:c.676-2A>G
  • NM_181833.3:c.447+18918A>G
  • LRG_511t1:c.676-2A>G
  • LRG_511t2:c.676-2A>G
  • LRG_511:g.62648A>G
  • NC_000022.10:g.30057192A>G
  • NM_000268.3:c.676-2A>G
Links:
dbSNP: rs1060503666
NCBI 1000 Genomes Browser:
rs1060503666
Molecular consequence:
  • NM_181833.3:c.447+18918A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000268.4:c.676-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_016418.5:c.676-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_181825.3:c.676-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_181828.3:c.550-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_181829.3:c.553-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_181830.3:c.427-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_181831.3:c.427-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_181832.3:c.676-2A>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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000553665Invitaecriteria provided, single submitter
Pathogenic
(Jun 25, 2016)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000553665.2

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

Description

This sequence change affects an acceptor splice site in intron 7 of the NF2 gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. Loss-of-function variants in NF2 are known to be pathogenic. This particular variant has been reported in the literature in a patient with three non-vestibular schwannomas, consistent with neurofibromatosis type 2 (NF2) (PMID: 21906157). It has also been seen in an individual with classic NF2 symptoms (Invitae database). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Nov 27, 2021

Support Center