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NM_000268.4(NF2):c.400C>T (p.Pro134Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Nov 21, 2018
Accession:
VCV000527693.2
Variation ID:
527693
Description:
single nucleotide variant
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NM_000268.4(NF2):c.400C>T (p.Pro134Ser)

Allele ID
534692
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29642238 (GRCh38) GRCh38 UCSC
22: 30038227 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_511:g.43683C>T
LRG_511t1:c.400C>T LRG_511p1:p.Pro134Ser
LRG_511t2:c.400C>T LRG_511p2:p.Pro134Ser
... more HGVS
Protein change
P134S, P92S, P51S, P93S
Other names
-
Canonical SPDI
NC_000022.11:29642237:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA411153798
dbSNP: rs1555988776
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 Nov 21, 2018 RCV000632638.2
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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
(Nov 21, 2018)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV000753823.2
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces proline with serine at codon 134 of the NF2 protein (p.Pro134Ser). The proline 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 rs1555988776...

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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 Dec 04, 2021