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NM_000268.4(NF2):c.1557G>A (p.Met519Ile)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Oct 30, 2021)
Last evaluated:
Dec 17, 2020
Accession:
VCV000662489.2
Variation ID:
662489
Description:
single nucleotide variant
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NM_000268.4(NF2):c.1557G>A (p.Met519Ile)

Allele ID
649360
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29678306 (GRCh38) GRCh38 UCSC
22: 30074295 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000268.3:c.1557G>A NP_000259.1:p.Met519Ile missense
LRG_511:g.79751G>A
LRG_511t1:c.1557G>A LRG_511p1:p.Met519Ile
... more HGVS
Protein change
M436I, M519I, M477I, M478I
Other names
-
Canonical SPDI
NC_000022.11:29678305:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1601659358
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 Aug 28, 2018 RCV000820145.1
Uncertain significance 1 criteria provided, single submitter Dec 17, 2020 RCV001759604.1
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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
(Aug 28, 2018)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV000960843.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces methionine with isoleucine at codon 519 of the NF2 protein (p.Met519Ile). The methionine residue is highly conserved and there is a … (more)
Uncertain significance
(Dec 17, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001987304.1
Submitted: (Oct 30, 2021)
Evidence details
Comment:
Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1601659358...

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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 06, 2021