NM_000268.4(NF2):c.243_248del (p.Leu82_Asp83del) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Nov 16, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001015508.1

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]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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
SCV001176350Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Nov 16, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV001176350.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.243_248delACTGGA variant (also known as p.L82_D83del) is located in coding exon 3 of the NF2 gene. This variant results from an in-frame ACTGGA deletion at nucleotide positions 243 to 248. This results in the in-frame deletion of leucine and aspartic acid at codons 82 and 83. This amino acid region is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 30, 2021

Support Center