NM_000268.4(NF2):c.243_248del (p.Leu82_Asp83del) AND Neurofibromatosis, type 2

Clinical significance:Uncertain significance (Last evaluated: Oct 27, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000632642.5

Allele description [Variation Report for NM_000268.4(NF2):c.243_248del (p.Leu82_Asp83del)]

NM_000268.4(NF2):c.243_248del (p.Leu82_Asp83del)

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.243_248del (p.Leu82_Asp83del)
HGVS:
  • NC_000022.11:g.29639092_29639097del
  • NG_009057.1:g.40537_40542del
  • NM_000268.3:c.243_248del
  • NM_000268.4:c.243_248delMANE SELECT
  • NM_016418.5:c.243_248del
  • NM_181825.3:c.243_248del
  • NM_181828.3:c.117_122del
  • NM_181829.3:c.240+2216_240+2221del
  • NM_181830.3:c.115-3110_115-3105del
  • NM_181831.3:c.115-3110_115-3105del
  • NM_181832.3:c.243_248del
  • NM_181833.3:c.243_248del
  • NP_000259.1:p.Leu82_Asp83del
  • NP_000259.1:p.Leu82_Asp83del
  • NP_057502.2:p.Leu82_Asp83del
  • NP_861546.1:p.Leu82_Asp83del
  • NP_861966.1:p.Leu40_Asp41del
  • NP_861970.1:p.Leu82_Asp83del
  • NP_861971.1:p.Leu82_Asp83del
  • LRG_511t1:c.243_248del
  • LRG_511t2:c.243_248del
  • LRG_511:g.40537_40542del
  • LRG_511p1:p.Leu82_Asp83del
  • LRG_511p2:p.Leu82_Asp83del
  • NC_000022.10:g.30035081_30035086del
  • NM_000268.3:c.243_248delACTGGA
  • NR_156186.2:n.725_730del
Links:
dbSNP: rs777858863
NCBI 1000 Genomes Browser:
rs777858863
Molecular consequence:
  • NM_000268.3:c.243_248del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_000268.4:c.243_248del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_016418.5:c.243_248del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_181825.3:c.243_248del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_181828.3:c.117_122del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_181832.3:c.243_248del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_181833.3:c.243_248del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_181829.3:c.240+2216_240+2221del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181830.3:c.115-3110_115-3105del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181831.3:c.115-3110_115-3105del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_156186.2:n.725_730del - 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
SCV000753827Invitaecriteria provided, single submitter
Uncertain significance
(Oct 27, 2020)
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, SCV000753827.5

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

Description

This variant, c.243_248delACTGGA, results in the deletion of 2 amino acids of the NF2 protein (p.Leu82_Asp83del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs777858863, ExAC 0.009%). This variant has not been reported in the literature in individuals with NF2-related disease. ClinVar contains an entry for this variant (Variation ID: 527697). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 30, 2021

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