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NM_000268.4(NF2):c.1678A>G (p.Ile560Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 3, 2020
Accession:
VCV000574211.5
Variation ID:
574211
Description:
single nucleotide variant
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NM_000268.4(NF2):c.1678A>G (p.Ile560Val)

Allele ID
574085
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29681542 (GRCh38) GRCh38 UCSC
22: 30077531 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.11:g.29681542A>G
NG_009057.1:g.82987A>G
NM_000268.4:c.1678A>G MANE Select NP_000259.1:p.Ile560Val missense
... more HGVS
Protein change
I560V, I519V, I518V, I477V
Other names
-
Canonical SPDI
NC_000022.11:29681541:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
dbSNP: rs557347747
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 Oct 3, 2020 RCV000696085.3
Uncertain significance 1 criteria provided, single submitter Oct 29, 2018 RCV001012613.1
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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
984 1016

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 29, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001173089.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.I560V variant (also known as c.1678A>G), located in coding exon 15 of the NF2 gene, results from an A to G substitution at nucleotide … (more)
Uncertain significance
(Oct 03, 2020)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV000824632.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces isoleucine with valine at codon 560 of the NF2 protein (p.Ile560Val). The isoleucine 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

Text-mined citations for rs557347747...

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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 Oct 30, 2021