ClinVar Genomic variation as it relates to human health
NM_001349999.2(RBFOX2):c.905_915del (p.Asn302fs)
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
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NM_001349999.2(RBFOX2):c.905_915del (p.Asn302fs)
Variation ID: 2108009 Accession: VCV002108009.2
- Type and length
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Deletion, 11 bp
- Location
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Cytogenetic: 22q12.3 22: 35761251-35761261 (GRCh38) [ NCBI UCSC ] 22: 36157298-36157308 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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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 Feb 8, 2023 Feb 20, 2024 Nov 28, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001349999.2:c.905_915del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001336928.2:p.Asn302fs frameshift NM_001031695.4:c.692_702del NP_001026865.1:p.Asn231fs frameshift NM_001082576.3:c.692_702del NP_001076045.1:p.Asn231fs frameshift NM_001082577.3:c.692_702del NP_001076046.1:p.Asn231fs frameshift NM_001082578.4:c.905_915del NP_001076047.2:p.Asn302fs frameshift NM_001082579.3:c.902_912del NP_001076048.2:p.Asn301fs frameshift NM_001349982.2:c.758_768del NP_001336911.1:p.Asn253fs frameshift NM_001349983.2:c.692_702del NP_001336912.1:p.Asn231fs frameshift NM_001349989.2:c.758_768del NP_001336918.1:p.Asn253fs frameshift NM_001349990.2:c.758_768del NP_001336919.1:p.Asn253fs frameshift NM_001349991.2:c.758_768del NP_001336920.1:p.Asn253fs frameshift NM_001349992.2:c.758_768del NP_001336921.1:p.Asn253fs frameshift NM_001349994.2:c.758_768del NP_001336923.1:p.Asn253fs frameshift NM_001349995.2:c.665_675del NP_001336924.1:p.Asn222fs frameshift NM_001349996.2:c.758_768del NP_001336925.1:p.Asn253fs frameshift NM_001349997.2:c.695_705del NP_001336926.1:p.Asn232fs frameshift NM_001349998.2:c.692_702del NP_001336927.1:p.Asn231fs frameshift NM_001394108.1:c.899_909del NP_001381037.1:p.Asn300fs frameshift NM_001394109.1:c.809_819del NP_001381038.1:p.Asn270fs frameshift NM_001394110.1:c.809_819del NP_001381039.1:p.Asn270fs frameshift NM_001394111.1:c.809_819del NP_001381040.1:p.Asn270fs frameshift NM_001394112.1:c.902_912del NP_001381041.1:p.Asn301fs frameshift NM_001394113.1:c.902_912del NP_001381042.1:p.Asn301fs frameshift NM_001394114.1:c.905_915del NP_001381043.1:p.Asn302fs frameshift NM_001394115.1:c.902_912del NP_001381044.1:p.Asn301fs frameshift NM_014309.4:c.695_705del NP_055124.1:p.Asn232fs frameshift NC_000022.11:g.35761254_35761264del NC_000022.10:g.36157301_36157311del NG_029628.1:g.272278_272288del NG_029628.2:g.272563_272573del - Protein change
- N301fs, N270fs, N300fs, N302fs, N231fs, N222fs, N232fs, N253fs
- Other names
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- Canonical SPDI
- NC_000022.11:35761250:TGCTGCATCATTGC:TGC
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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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.
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Allele frequency
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The frequency of the allele represented by this VCV record.
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- 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 | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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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. |
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RBFOX2 | - | - |
GRCh38 GRCh38 GRCh37 |
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Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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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
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Uncertain significance (1) |
criteria provided, single submitter
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Nov 28, 2022 | RCV003033939.2 |
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
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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
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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
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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. |
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Uncertain significance
(Nov 28, 2022)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV003323832.2
First in ClinVar: Feb 07, 2023 Last updated: Feb 20, 2024 |
Comment:
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant … (more)
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with RBFOX2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn302Serfs*76) in the RBFOX2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RBFOX2 cause disease. (less)
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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 Feb 29, 2024
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.