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NM_000268.4(NF2):c.1714A>C (p.Ser572Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: May 26, 2021)
Last evaluated:
Jun 11, 2020
Accession:
VCV001025043.2
Variation ID:
1025043
Description:
single nucleotide variant
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NM_000268.4(NF2):c.1714A>C (p.Ser572Arg)

Allele ID
1014539
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29681578 (GRCh38) GRCh38 UCSC
22: 30077567 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.30077567A>C
NC_000022.11:g.29681578A>C
NM_000268.4:c.1714A>C MANE Select NP_000259.1:p.Ser572Arg missense
... more HGVS
Protein change
S489R, S530R, S531R, S572R
Other names
-
Canonical SPDI
NC_000022.11:29681577: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 Jun 11, 2020 RCV001325308.1
Uncertain significance 1 criteria provided, single submitter Feb 13, 2020 RCV001508930.1
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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
(Jun 11, 2020)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV001516295.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces serine with arginine at codon 572 of the NF2 protein (p.Ser572Arg). The serine residue is moderately conserved and there is a … (more)
Uncertain significance
(Feb 13, 2020)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001715370.1
Submitted: (May 26, 2021)
Evidence details

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 Jun 14, 2021