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

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 3, 2019
Accession:
VCV000457904.5
Variation ID:
457904
Description:
single nucleotide variant
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NM_000268.4(NF2):c.1701C>G (p.Asp567Glu)

Allele ID
470130
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29681565 (GRCh38) GRCh38 UCSC
22: 30077554 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000268.3:c.1701C>G NP_000259.1:p.Asp567Glu missense
NC_000022.11:g.29681565C>G
NG_009057.1:g.83010C>G
... more HGVS
Protein change
D567E, D526E, D484E, D525E
Other names
-
Canonical SPDI
NC_000022.11:29681564:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00004
Exome Aggregation Consortium (ExAC) 0.00005
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Links
ClinGen: CA10175568
dbSNP: rs1049732514
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Dec 3, 2019 RCV000557509.2
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000765631.1
Uncertain significance 1 criteria provided, single submitter Jan 24, 2019 RCV001012778.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NF2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
985 1017

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 03, 2019)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV000628858.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces aspartic acid with glutamic acid at codon 567 of the NF2 protein (p.Asp567Glu). The aspartic acid residue is weakly conserved and … (more)
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Schwannomatosis 1
Meningioma, familial
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000896956.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Jan 24, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001173278.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.D567E variant (also known as c.1701C>G), located in coding exon 15 of the NF2 gene, results from a C to G substitution at nucleotide … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
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 Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Text-mined citations for rs1049732514...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021