Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000268.4(NF2):c.271C>A (p.Pro91Thr)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Oct 31, 2017
Accession:
VCV000527706.1
Variation ID:
527706
Description:
single nucleotide variant
Help

NM_000268.4(NF2):c.271C>A (p.Pro91Thr)

Allele ID
534295
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29639120 (GRCh38) GRCh38 UCSC
22: 30035109 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_511:g.40565C>A
LRG_511t1:c.271C>A LRG_511p1:p.Pro91Thr
LRG_511t2:c.271C>A LRG_511p2:p.Pro91Thr
... more HGVS
Protein change
P91T, P49T
Other names
-
Canonical SPDI
NC_000022.11:29639119:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA411153125
dbSNP: rs1555987645
VarSome
Help

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, 2017 RCV000632651.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 31, 2017)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV000753837.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change replaces proline with threonine at codon 91 of the NF2 protein (p.Pro91Thr). The proline residue is moderately conserved and there is a … (more)

Functional evidence

Help
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

Help
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 rs1555987645...

Help
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 Oct 24, 2021