NM_000268.4(NF2):c.1012C>T (p.Arg338Cys) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jul 20, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000432645.3

Allele description [Variation Report for NM_000268.4(NF2):c.1012C>T (p.Arg338Cys)]

NM_000268.4(NF2):c.1012C>T (p.Arg338Cys)

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.1012C>T (p.Arg338Cys)
HGVS:
  • NC_000022.11:g.29671838C>T
  • NG_009057.1:g.73283C>T
  • NM_000268.3:c.1012C>T
  • NM_000268.4:c.1012C>TMANE SELECT
  • NM_016418.5:c.1012C>T
  • NM_181825.3:c.1012C>T
  • NM_181828.3:c.886C>T
  • NM_181829.3:c.889C>T
  • NM_181830.3:c.763C>T
  • NM_181831.3:c.763C>T
  • NM_181832.3:c.1012C>T
  • NM_181833.3:c.448-22914C>T
  • NP_000259.1:p.Arg338Cys
  • NP_000259.1:p.Arg338Cys
  • NP_057502.2:p.Arg338Cys
  • NP_861546.1:p.Arg338Cys
  • NP_861966.1:p.Arg296Cys
  • NP_861967.1:p.Arg297Cys
  • NP_861968.1:p.Arg255Cys
  • NP_861969.1:p.Arg255Cys
  • NP_861970.1:p.Arg338Cys
  • LRG_511t1:c.1012C>T
  • LRG_511t2:c.1012C>T
  • LRG_511:g.73283C>T
  • LRG_511p1:p.Arg338Cys
  • LRG_511p2:p.Arg338Cys
  • NC_000022.10:g.30067827C>T
  • NR_156186.2:n.1494C>T
Protein change:
R255C
Links:
dbSNP: rs761795291
NCBI 1000 Genomes Browser:
rs761795291
Molecular consequence:
  • NM_181833.3:c.448-22914C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000268.3:c.1012C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000268.4:c.1012C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016418.5:c.1012C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181825.3:c.1012C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181828.3:c.886C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181829.3:c.889C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181830.3:c.763C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181831.3:c.763C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181832.3:c.1012C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_156186.2:n.1494C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000536556GeneDxcriteria provided, single submitter
Uncertain significance
(Jul 20, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000536556.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28481359, 18547414)

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

Last Updated: Oct 24, 2021

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