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NM_000268.4(NF2):c.1701C>G (p.Asp567Glu) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Oct 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

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Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000765631.1

Allele description [Variation Report for NM_000268.4(NF2):c.1701C>G (p.Asp567Glu)]

NM_000268.4(NF2):c.1701C>G (p.Asp567Glu)

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.1701C>G (p.Asp567Glu)
HGVS:
  • NC_000022.11:g.29681565C>G
  • NG_009057.1:g.83010C>G
  • NM_000268.3:c.1701C>G
  • NM_000268.4:c.1701C>GMANE SELECT
  • NM_016418.5:c.1701C>G
  • NM_181825.3:c.1701C>G
  • NM_181828.3:c.1575C>G
  • NM_181829.3:c.1578C>G
  • NM_181830.3:c.1452C>G
  • NM_181831.3:c.1452C>G
  • NM_181832.3:c.1701C>G
  • NM_181833.3:c.448-13187C>G
  • NP_000259.1:p.Asp567Glu
  • NP_000259.1:p.Asp567Glu
  • NP_057502.2:p.Asp567Glu
  • NP_861546.1:p.Asp567Glu
  • NP_861966.1:p.Asp525Glu
  • NP_861967.1:p.Asp526Glu
  • NP_861968.1:p.Asp484Glu
  • NP_861969.1:p.Asp484Glu
  • NP_861970.1:p.Asp567Glu
  • LRG_511t1:c.1701C>G
  • LRG_511t2:c.1701C>G
  • LRG_511:g.83010C>G
  • LRG_511p1:p.Asp567Glu
  • LRG_511p2:p.Asp567Glu
  • NC_000022.10:g.30077554C>G
  • NR_156186.2:n.2183C>G
Protein change:
D484E
Links:
dbSNP: rs1049732514
NCBI 1000 Genomes Browser:
rs1049732514
Molecular consequence:
  • NM_181833.3:c.448-13187C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000268.3:c.1701C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000268.4:c.1701C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016418.5:c.1701C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181825.3:c.1701C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181828.3:c.1575C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181829.3:c.1578C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181830.3:c.1452C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181831.3:c.1452C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181832.3:c.1701C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_156186.2:n.2183C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Meningioma, familial
Synonyms:
Meningioma, familial, susceptibility to
Identifiers:
MONDO: MONDO:0011789; MedGen: C3551915; Orphanet: 263662; OMIM: 607174
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
Name:
Schwannomatosis 1 (SWNTS1)
Synonyms:
Neurilemmomatosis congenital cutaneous
Identifiers:
MONDO: MONDO:0024517; MedGen: C4048809; Orphanet: 93921; OMIM: 162091

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000896956Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Uncertain significance
(Oct 31, 2018) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

Help
EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics,Fulgent Genetics, SCV000896956.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

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