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NM_000268.4(NF2):c.1A>G (p.Met1Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Oct 30, 2021)
Last evaluated:
Oct 31, 2019
Accession:
VCV000956856.3
Variation ID:
956856
Description:
single nucleotide variant
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NM_000268.4(NF2):c.1A>G (p.Met1Val)

Allele ID
951406
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29603999 (GRCh38) GRCh38 UCSC
22: 29999988 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_511:g.5444A>G
LRG_511t1:c.1A>G
LRG_511t2:c.1A>G LRG_511p2:p.Met1Val
... more HGVS
Protein change
M1V
Other names
-
Canonical SPDI
NC_000022.11:29603998:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs1319282473
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 31, 2019 RCV001229737.1
Uncertain significance 1 criteria provided, single submitter Apr 25, 2019 RCV001751446.1
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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, 2019)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV001402192.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change affects the initiator methionine of the NF2 mRNA. The next in-frame methionine is located at codon 9. This variant is not present … (more)
Uncertain significance
(Apr 25, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001985707.1
Submitted: (Oct 30, 2021)
Evidence details
Comment:
Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; This variant is … (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 rs1319282473...

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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