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NM_000268.4(NF2):c.1018G>A (p.Ala340Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 9, 2020
Accession:
VCV000527708.6
Variation ID:
527708
Description:
single nucleotide variant
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NM_000268.4(NF2):c.1018G>A (p.Ala340Thr)

Allele ID
534188
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 30067833 (GRCh37) GRCh37 UCSC
22: 29671844 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_511:g.73289G>A
LRG_511t1:c.1018G>A LRG_511p1:p.Ala340Thr
LRG_511t2:c.1018G>A LRG_511p2:p.Ala340Thr
... more HGVS
Protein change
A340T, A257T, A298T, A299T
Other names
-
Canonical SPDI
NC_000022.11:29671843:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA036618
dbSNP: rs780430071
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 Oct 9, 2020 RCV000632653.5
Uncertain significance 1 criteria provided, single submitter Jul 8, 2019 RCV001009686.1
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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 08, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001169784.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.A340T variant (also known as c.1018G>A), located in coding exon 11 of the NF2 gene, results from a G to A substitution at nucleotide … (more)
Uncertain significance
(Oct 09, 2020)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV000753839.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces alanine with threonine at codon 340 of the NF2 protein (p.Ala340Thr). The alanine residue is moderately 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

Text-mined citations for rs780430071...

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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