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NM_000268.4(NF2):c.1540A>C (p.Met514Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 14, 2020
Accession:
VCV001046085.1
Variation ID:
1046085
Description:
single nucleotide variant
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NM_000268.4(NF2):c.1540A>C (p.Met514Leu)

Allele ID
1035130
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29678289 (GRCh38) GRCh38 UCSC
22: 30074278 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.30074278A>C
NC_000022.11:g.29678289A>C
NM_000268.4:c.1540A>C MANE Select NP_000259.1:p.Met514Leu missense
... more HGVS
Protein change
M514L, M431L, M473L, M472L
Other names
-
Canonical SPDI
NC_000022.11:29678288:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 14, 2020 RCV001350594.1
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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
(Aug 14, 2020)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV001545000.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces methionine with leucine at codon 514 of the NF2 protein (p.Met514Leu). 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.

Record last updated Mar 28, 2021