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NM_000268.4(NF2):c.215T>C (p.Val72Ala)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 13, 2020
Accession:
VCV000569354.6
Variation ID:
569354
Description:
single nucleotide variant
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NM_000268.4(NF2):c.215T>C (p.Val72Ala)

Allele ID
574062
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29636851 (GRCh38) GRCh38 UCSC
22: 30032840 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000268.3:c.215T>C NP_000259.1:p.Val72Ala missense
LRG_511:g.38296T>C
LRG_511t1:c.215T>C LRG_511p1:p.Val72Ala
... more HGVS
Protein change
V72A
Other names
-
Canonical SPDI
NC_000022.11:29636850:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1260510937
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 3 criteria provided, multiple submitters, no conflicts Sep 13, 2020 RCV000689963.4
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000765628.1
Uncertain significance 1 criteria provided, single submitter Nov 28, 2018 RCV001014488.1
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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
(Jul 02, 2018)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: unknown
Mendelics
Accession: SCV000839511.1
Submitted: (Aug 20, 2018)
Evidence details
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Schwannomatosis 1
Meningioma, familial
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000896953.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001308953.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Nov 28, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001175202.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.V72A variant (also known as c.215T>C), located in coding exon 2 of the NF2 gene, results from a T to C substitution at nucleotide … (more)
Uncertain significance
(Sep 13, 2020)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV000817636.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces valine with alanine at codon 72 of the NF2 protein (p.Val72Ala). The valine 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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868
Neurofibromatosis type 2: molecular and clinical analyses in Argentine sporadic and familial cases. Ferrer M Neuroscience letters 2010 PMID: 20553997

Text-mined citations for rs1260510937...

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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 Oct 30, 2021