NM_000268.4(NF2):c.1340+8G>T AND Neurofibromatosis, type 2

Clinical significance:Conflicting interpretations of pathogenicity, Benign(1);Likely benign(1);Uncertain significance(1) (Last evaluated: Nov 3, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000226386.9

Allele description [Variation Report for NM_000268.4(NF2):c.1340+8G>T]

NM_000268.4(NF2):c.1340+8G>T

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.1340+8G>T
HGVS:
  • NC_000022.11:g.29673494G>T
  • NG_009057.1:g.74939G>T
  • NM_000268.4:c.1340+8G>TMANE SELECT
  • NM_016418.5:c.1340+8G>T
  • NM_181825.3:c.1340+8G>T
  • NM_181828.3:c.1214+8G>T
  • NM_181829.3:c.1217+8G>T
  • NM_181830.3:c.1091+8G>T
  • NM_181831.3:c.1091+8G>T
  • NM_181832.3:c.1340+8G>T
  • NM_181833.3:c.448-21258G>T
  • LRG_511t1:c.1340+8G>T
  • LRG_511t2:c.1340+8G>T
  • LRG_511:g.74939G>T
  • NC_000022.10:g.30069483G>T
  • NM_000268.3:c.1340+8G>T
  • NM_181832.2:c.1340+8G>T
Links:
dbSNP: rs370604189
NCBI 1000 Genomes Browser:
rs370604189
Molecular consequence:
  • NM_000268.4:c.1340+8G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_016418.5:c.1340+8G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181825.3:c.1340+8G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181828.3:c.1214+8G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181829.3:c.1217+8G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181830.3:c.1091+8G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181831.3:c.1091+8G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181832.3:c.1340+8G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181833.3:c.448-21258G>T - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000284543Invitaecriteria provided, single submitter
Benign
(Dec 7, 2020)
germlineclinical testing

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

SCV000839521Mendelicscriteria provided, single submitter
Likely benign
(Jul 2, 2018)
unknownclinical testing

Citation Link,

SCV002011421Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresdencriteria provided, single submitter
Uncertain significance
(Nov 3, 2021)
germlineclinical testing

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

Summary from all submissions

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

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 Invitae, SCV000284543.7

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

From Mendelics, SCV000839521.1

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

From Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden, SCV002011421.1

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

Last Updated: Nov 27, 2021

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