The c.949G>A (p.G317R) alteration is located in exon 9 (coding exon 9) of the RBFOX1 gene. This alteration results from a G to A substitution at nucleotide position 949, causing the glycine (G) at amino acid position 317 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_018723.4(RBFOX1):c.889G>A (p.Gly297Ser)
Germline
Classification
Help
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.
(1)
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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.
Uncertain significance
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_018723.4(RBFOX1):c.889G>A (p.Gly297Ser)
Variation ID: 2608695 Accession: VCV002608695.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 16p13.3 16: 7653946 (GRCh38) [ NCBI UCSC ] 16: 7703948 (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 Oct 28, 2023 May 1, 2024 Jun 29, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_018723.4:c.889G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_061193.2:p.Gly297Ser missense NM_145893.3:c.949G>A MANE Plus Clinical Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_665900.1:p.Gly317Arg missense NM_001142333.2:c.808G>A NP_001135805.1:p.Gly270Ser missense NM_001142334.2:c.889G>A NP_001135806.1:p.Gly297Ser missense NM_001308117.1:c.1018G>A NP_001295046.1:p.Gly340Ser missense NM_001364800.2:c.889G>A NP_001351729.1:p.Gly297Ser missense NM_001411047.1:c.1018G>A NP_001397976.1:p.Gly340Ser missense NM_001415887.1:c.1486G>A NP_001402816.1:p.Gly496Ser missense NM_001415888.1:c.1405G>A NP_001402817.1:p.Gly469Ser missense NM_001415889.1:c.997G>A NP_001402818.1:p.Gly333Ser missense NM_001415890.1:c.964G>A NP_001402819.1:p.Gly322Ser missense NM_001415891.1:c.1018G>A NP_001402820.1:p.Gly340Ser missense NM_001415892.1:c.997G>A NP_001402821.1:p.Gly333Ser missense NM_001415893.1:c.964G>A NP_001402822.1:p.Gly322Ser missense NM_001415894.1:c.997G>A NP_001402823.1:p.Gly333Ser missense NM_001415895.1:c.1018G>A NP_001402824.1:p.Gly340Ser missense NM_001415896.1:c.949G>A NP_001402825.1:p.Gly317Ser missense NM_001415897.1:c.937G>A NP_001402826.1:p.Gly313Ser missense NM_001415898.1:c.997G>A NP_001402827.1:p.Gly333Ser missense NM_001415899.1:c.964G>A NP_001402828.1:p.Gly322Ser missense NM_001415900.1:c.916G>A NP_001402829.1:p.Gly306Ser missense NM_001415901.1:c.964G>A NP_001402830.1:p.Gly322Ser missense NM_001415902.1:c.895G>A NP_001402831.1:p.Gly299Ser missense NM_001415903.1:c.883G>A NP_001402832.1:p.Gly295Ser missense NM_001415904.1:c.949G>A NP_001402833.1:p.Gly317Ser missense NM_001415905.1:c.871G>A NP_001402834.1:p.Gly291Ser missense NM_001415906.1:c.868G>A NP_001402835.1:p.Gly290Arg missense NM_001415907.1:c.937G>A NP_001402836.1:p.Gly313Ser missense NM_001415908.1:c.925G>A NP_001402837.1:p.Gly309Ser missense NM_001415909.1:c.916G>A NP_001402838.1:p.Gly306Ser missense NM_001415910.1:c.904G>A NP_001402839.1:p.Gly302Ser missense NM_001415911.1:c.895G>A NP_001402840.1:p.Gly299Ser missense NM_001415912.1:c.823G>A NP_001402841.1:p.Gly275Ser missense NM_001415913.1:c.883G>A NP_001402842.1:p.Gly295Ser missense NM_001415914.1:c.844G>A NP_001402843.1:p.Gly282Ser missense NM_001415915.1:c.868G>A NP_001402844.1:p.Gly290Ser missense NM_001415916.1:c.796G>A NP_001402845.1:p.Gly266Ser missense NM_001415917.1:c.814G>A NP_001402846.1:p.Gly272Ser missense NM_145891.3:c.949G>A NP_665898.1:p.Gly317Arg missense NM_145892.3:c.949G>A NP_665899.1:p.Gly317Arg missense NC_000016.10:g.7653946G>A NC_000016.9:g.7703948G>A NG_011881.2:g.2419195G>A NG_133029.1:g.713G>A - Protein change
- G299S, G322S, G266S, G282S, G290R, G291S, G302S, G340S, G496S, G270S, G272S, G275S, G290S, G306S, G317S, G333S, G469S, G295S, G297S, G309S, G313S, G317R
- Other names
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- Canonical SPDI
- NC_000016.10:7653945:G:A
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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
Help
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 | ||
|---|---|---|---|---|---|---|
| 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. |
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| RBFOX1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
542 | 694 | |
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. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
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Jun 29, 2023 | RCV003361798.2 |
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
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. |
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Uncertain significance
(Jun 29, 2023)
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criteria provided, single submitter
Method: clinical testing
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Inborn genetic diseases
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV004072858.2
First in ClinVar: Oct 28, 2023 Last updated: May 01, 2024 |
Comment:
The c.949G>A (p.G317R) alteration is located in exon 9 (coding exon 9) of the RBFOX1 gene. This alteration results from a G to A substitution … (more)
The c.949G>A (p.G317R) alteration is located in exon 9 (coding exon 9) of the RBFOX1 gene. This alteration results from a G to A substitution at nucleotide position 949, causing the glycine (G) at amino acid position 317 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less)
|
Comment:
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. |
Comment:
The c.949G>A (p.G317R) alteration is located in exon 9 (coding exon 9) of the RBFOX1 gene. This alteration results from a G to A substitution at nucleotide position 949, causing the glycine (G) at amino acid position 317 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Citations for germline classification of this variant
Help| There 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 May 01, 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.