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NM_000268.4(NF2):c.647T>C (p.Met216Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 9, 2019
Accession:
VCV000959120.2
Variation ID:
959120
Description:
single nucleotide variant
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NM_000268.4(NF2):c.647T>C (p.Met216Thr)

Allele ID
951410
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29658236 (GRCh38) GRCh38 UCSC
22: 30054225 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_511:g.59681T>C
LRG_511t1:c.647T>C
LRG_511t2:c.647T>C LRG_511p2:p.Met216Thr
... more HGVS
Protein change
M133T, M175T, M174T, M216T
Other names
-
Canonical SPDI
NC_000022.11:29658235:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs2066372172
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 9, 2019 RCV001232411.1
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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
(Sep 09, 2019)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV001404969.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces methionine with threonine at codon 216 of the NF2 protein (p.Met216Thr). The methionine residue is highly 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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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 rs2066372172...

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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