ClinVar Genomic variation as it relates to human health
NM_000268.4(NF2):c.465dup (p.Ser156fs)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000268.4(NF2):c.465dup (p.Ser156fs)
Variation ID: 1742237 Accession: VCV001742237.1
- Type and length
-
Duplication, 1 bp
- Location
-
Cytogenetic: 22q12.2 22: 29654670-29654671 (GRCh38) [ NCBI UCSC ] 22: 30050659-30050660 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Nov 29, 2022 Nov 29, 2022 Feb 24, 2022 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_000268.4:c.465dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000259.1:p.Ser156fs frameshift NM_000268.3:c.465dupC frameshift NM_001407053.1:c.351dup NP_001393982.1:p.Ser118Glnfs frameshift NM_001407054.1:c.342dup NP_001393983.1:p.Ser115Glnfs frameshift NM_001407055.1:c.339dup NP_001393984.1:p.Ser114Glnfs frameshift NM_001407056.1:c.351dup NP_001393985.1:p.Ser118Glnfs frameshift NM_001407057.1:c.465dup NP_001393986.1:p.Ser156Glnfs frameshift NM_001407058.1:c.342dup NP_001393987.1:p.Ser115Glnfs frameshift NM_001407059.1:c.465dup NP_001393988.1:p.Ser156Glnfs frameshift NM_001407060.1:c.465dup NP_001393989.1:p.Ser156Glnfs frameshift NM_001407062.1:c.342dup NP_001393991.1:p.Ser115Glnfs frameshift NM_001407063.1:c.216dup NP_001393992.1:p.Ser73Glnfs frameshift NM_001407064.1:c.216dup NP_001393993.1:p.Ser73Glnfs frameshift NM_001407065.1:c.-176dup NM_001407066.1:c.465dup NP_001393995.1:p.Ser156Glnfs frameshift NM_001407067.1:c.234dup NP_001393996.1:p.Ser79Glnfs frameshift NM_016418.5:c.465dup NP_057502.2:p.Ser156fs frameshift NM_181825.3:c.465dup NP_861546.1:p.Ser156fs frameshift NM_181828.3:c.339dup NP_861966.1:p.Ser114fs frameshift NM_181829.3:c.342dup NP_861967.1:p.Ser115fs frameshift NM_181830.3:c.216dup NP_861968.1:p.Ser73fs frameshift NM_181831.3:c.216dup NP_861969.1:p.Ser73fs frameshift NM_181832.3:c.465dup NP_861970.1:p.Ser156fs frameshift NM_181833.3:c.447+12389dup intron variant NR_156186.2:n.947dup non-coding transcript variant NC_000022.11:g.29654674dup NC_000022.10:g.30050663dup NG_009057.1:g.56119dup LRG_511:g.56119dup LRG_511t1:c.465dup LRG_511p1:p.Ser156Glnfs LRG_511t2:c.465dup LRG_511p2:p.Ser156fs - Protein change
- S115fs, S114fs, S156fs, S73fs
- Other names
- -
- Canonical SPDI
- NC_000022.11:29654670:CCCC:CCCCC
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
NF2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1944 | 1993 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Pathogenic (1) |
criteria provided, single submitter
|
Feb 24, 2022 | RCV002335101.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
---|---|---|---|---|---|
Pathogenic
(Feb 24, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV002638084.1
First in ClinVar: Nov 29, 2022 Last updated: Nov 29, 2022 |
Comment:
The c.465dupC variant, located in coding exon 5 of the NF2 gene, results from a duplication of C at nucleotide position 465. This changes the … (more)
The c.465dupC variant, located in coding exon 5 of the NF2 gene, results from a duplication of C at nucleotide position 465. This changes the amino acid at position 156 from a serine to a glutamine (p.S156Qfs*47) and causes a translational frameshift with a predicted alternate stop codon. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
Number of individuals with the variant: 1
|
Germline Functional Evidence
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 germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated Dec 25, 2023
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.