NM_000268.4(NF2):c.1385G>A (p.Arg462His) AND not provided

Clinical significance:Likely benign (Last evaluated: Jan 7, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001562976.2

Allele description [Variation Report for NM_000268.4(NF2):c.1385G>A (p.Arg462His)]

NM_000268.4(NF2):c.1385G>A (p.Arg462His)

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.1385G>A (p.Arg462His)
HGVS:
  • NC_000022.11:g.29674880G>A
  • NG_009057.1:g.76325G>A
  • NM_000268.3:c.1385G>A
  • NM_000268.4:c.1385G>AMANE SELECT
  • NM_016418.5:c.1385G>A
  • NM_181825.3:c.1385G>A
  • NM_181828.3:c.1259G>A
  • NM_181829.3:c.1262G>A
  • NM_181830.3:c.1136G>A
  • NM_181831.3:c.1136G>A
  • NM_181832.3:c.1385G>A
  • NM_181833.3:c.448-19872G>A
  • NP_000259.1:p.Arg462His
  • NP_000259.1:p.Arg462His
  • NP_057502.2:p.Arg462His
  • NP_861546.1:p.Arg462His
  • NP_861966.1:p.Arg420His
  • NP_861967.1:p.Arg421His
  • NP_861968.1:p.Arg379His
  • NP_861969.1:p.Arg379His
  • NP_861970.1:p.Arg462His
  • LRG_511t1:c.1385G>A
  • LRG_511t2:c.1385G>A
  • LRG_511:g.76325G>A
  • LRG_511p1:p.Arg462His
  • LRG_511p2:p.Arg462His
  • NC_000022.10:g.30070869G>A
  • NR_156186.2:n.1867G>A
Protein change:
R379H
Links:
dbSNP: rs373650983
NCBI 1000 Genomes Browser:
rs373650983
Molecular consequence:
  • NM_181833.3:c.448-19872G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000268.3:c.1385G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000268.4:c.1385G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016418.5:c.1385G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181825.3:c.1385G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181828.3:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181829.3:c.1262G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181830.3:c.1136G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181831.3:c.1136G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181832.3:c.1385G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_156186.2:n.1867G>A - 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
SCV001785834GeneDxcriteria provided, single submitter
Likely benign
(Jan 7, 2021)
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, SCV001785834.1

#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: 31712784)

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

Last Updated: Nov 27, 2021

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