NM_000268.4(NF2):c.1762C>T (p.Arg588Ter) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 29, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001565668.3

Allele description [Variation Report for NM_000268.4(NF2):c.1762C>T (p.Arg588Ter)]

NM_000268.4(NF2):c.1762C>T (p.Arg588Ter)

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.1762C>T (p.Arg588Ter)
HGVS:
  • NC_000022.11:g.29694776C>T
  • NG_009057.1:g.96221C>T
  • NM_000268.4:c.1762C>TMANE SELECT
  • NM_016418.5:c.*34C>T
  • NM_181828.3:c.*34C>T
  • NM_181829.3:c.*34C>T
  • NM_181830.3:c.*34C>T
  • NM_181832.3:c.*49C>T
  • NM_181833.3:c.472C>T
  • NP_000259.1:p.Arg588Ter
  • NP_861971.1:p.Arg158Ter
  • LRG_511t1:c.1762C>T
  • LRG_511t2:c.*34C>T
  • LRG_511:g.96221C>T
  • NC_000022.10:g.30090765C>T
  • NM_000268.3:c.1762C>T
  • NR_156186.2:n.2244C>T
Protein change:
R158*
Links:
dbSNP: rs1341371726
NCBI 1000 Genomes Browser:
rs1341371726
Molecular consequence:
  • NM_016418.5:c.*34C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_181828.3:c.*34C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_181829.3:c.*34C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_181830.3:c.*34C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_181832.3:c.*49C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NR_156186.2:n.2244C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000268.4:c.1762C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181833.3:c.472C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001789057GeneDxcriteria provided, single submitter
Uncertain significance
(Mar 29, 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, SCV001789057.1

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

Description

Not observed in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation, although loss-of-function variants have not been reported downstream of this position in the protein; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Nov 27, 2021

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