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NM_000268.4(NF2):c.1619A>G (p.Asn540Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 2, 2020
Accession:
VCV000565467.6
Variation ID:
565467
Description:
single nucleotide variant
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NM_000268.4(NF2):c.1619A>G (p.Asn540Ser)

Allele ID
574080
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29681483 (GRCh38) GRCh38 UCSC
22: 30077472 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_511:g.82928A>G
NC_000022.10:g.30077472A>G
NC_000022.11:g.29681483A>G
... more HGVS
Protein change
N540S, N457S, N498S, N499S
Other names
-
Canonical SPDI
NC_000022.11:29681482:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00004
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
dbSNP: rs774824164
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 Sep 2, 2020 RCV000685036.4
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000765630.1
Uncertain significance 1 criteria provided, single submitter May 3, 2018 RCV001012452.1
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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
(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: SCV000896955.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(May 03, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001172904.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.N540S variant (also known as c.1619A>G), located in coding exon 15 of the NF2 gene, results from an A to G substitution at nucleotide … (more)
Uncertain significance
(Sep 02, 2020)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV000812507.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces asparagine with serine at codon 540 of the NF2 protein (p.Asn540Ser). The asparagine residue is moderately conserved and there is a … (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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
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 rs774824164...

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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 Dec 04, 2021