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NM_000268.4(NF2):c.1018G>T (p.Ala340Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Nov 30, 2020)
Last evaluated:
Oct 26, 2019
Accession:
VCV000412217.3
Variation ID:
412217
Description:
single nucleotide variant
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NM_000268.4(NF2):c.1018G>T (p.Ala340Ser)

Allele ID
404389
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29671844 (GRCh38) GRCh38 UCSC
22: 30067833 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.30067833G>T
NC_000022.11:g.29671844G>T
NG_009057.1:g.73289G>T
... more HGVS
Protein change
A340S, A299S, A257S, A298S
Other names
-
Canonical SPDI
NC_000022.11:29671843:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA16616604
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 May 26, 2016 RCV000477644.1
Uncertain significance 1 criteria provided, single submitter Oct 26, 2019 RCV001009688.1
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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
(May 26, 2016)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV000553686.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change replaces alanine with serine at codon 340 of the NF2 protein (p.Ala340Ser). The alanine residue is moderately conserved and there is a … (more)
Uncertain significance
(Oct 26, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001169786.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.A340S variant (also known as c.1018G>T), located in coding exon 11 of the NF2 gene, results from a G to T substitution at nucleotide … (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 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 Dec 04, 2021