The c.1761C>G (p.S587R) alteration is located in exon 18 (coding exon 18) of the FIP1L1 gene. This alteration results from a C to G substitution at nucleotide position 1761, causing the serine (S) at amino acid position 587 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_030917.4(FIP1L1):c.1761C>G (p.Ser587Arg)
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_030917.4(FIP1L1):c.1761C>G (p.Ser587Arg)
Variation ID: 3095256 Accession: VCV003095256.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 4q12 4: 53459425 (GRCh38) [ NCBI UCSC ] 4: 54325592 (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 May 1, 2024 May 1, 2024 Jan 16, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001126328.3:c.*1482G>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
3 prime UTR NM_030917.4:c.1761C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_112179.2:p.Ser587Arg missense NM_001134937.2:c.1743C>G NP_001128409.1:p.Ser581Arg missense NM_001134938.2:c.1539C>G NP_001128410.1:p.Ser513Arg missense NM_001376744.1:c.1797C>G NP_001363673.1:p.Ser599Arg missense NM_001376745.1:c.1788C>G NP_001363674.1:p.Ser596Arg missense NM_001376746.1:c.1782C>G NP_001363675.1:p.Ser594Arg missense NM_001376747.1:c.1685C>G NP_001363676.1:p.Ala562Gly missense NM_001376748.1:c.1728C>G NP_001363677.1:p.Ser576Arg missense NM_001376749.1:c.1719C>G NP_001363678.1:p.Ser573Arg missense NM_001376750.1:c.1716C>G NP_001363679.1:p.Ser572Arg missense NM_001376751.1:c.1713C>G NP_001363680.1:p.Ser571Arg missense NM_001376752.1:c.1713C>G NP_001363681.1:p.Ser571Arg missense NM_001376753.1:c.1701C>G NP_001363682.1:p.Ser567Arg missense NM_001376754.1:c.1692C>G NP_001363683.1:p.Ser564Arg missense NM_001376755.1:c.1689C>G NP_001363684.1:p.Ser563Arg missense NM_001376756.1:c.1689C>G NP_001363685.1:p.Ser563Arg missense NM_001376757.1:c.1604C>G NP_001363686.1:p.Ala535Gly missense NM_001376758.1:c.1683C>G NP_001363687.1:p.Ser561Arg missense NM_001376759.1:c.1680C>G NP_001363688.1:p.Ser560Arg missense NM_001376760.1:c.1674C>G NP_001363689.1:p.Ser558Arg missense NM_001376761.1:c.1674C>G NP_001363690.1:p.Ser558Arg missense NM_001376762.1:c.1668C>G NP_001363691.1:p.Ser556Arg missense NM_001376764.1:c.1662C>G NP_001363693.1:p.Ser554Arg missense NM_001376765.1:c.1653C>G NP_001363694.1:p.Ser551Arg missense NM_001376766.1:c.1574C>G NP_001363695.1:p.Ala525Gly missense NM_001376767.1:c.1647C>G NP_001363696.1:p.Ser549Arg missense NM_001376768.1:c.1641C>G NP_001363697.1:p.Ser547Arg missense NM_001376769.1:c.1635C>G NP_001363698.1:p.Ser545Arg missense NM_001376770.1:c.1541C>G NP_001363699.1:p.Ala514Gly missense NM_001376771.1:c.1611C>G NP_001363700.1:p.Ser537Arg missense NM_001376772.1:c.1611C>G NP_001363701.1:p.Ser537Arg missense NM_001376773.1:c.1608C>G NP_001363702.1:p.Ser536Arg missense NM_001376774.1:c.1593C>G NP_001363703.1:p.Ser531Arg missense NM_001376775.1:c.1584C>G NP_001363704.1:p.Ser528Arg missense NM_001376776.1:c.1502C>G NP_001363705.1:p.Ala501Gly missense NM_001376777.1:c.1578C>G NP_001363706.1:p.Ser526Arg missense NM_001376778.1:c.1575C>G NP_001363707.1:p.Ser525Arg missense NM_001376779.1:c.1566C>G NP_001363708.1:p.Ser522Arg missense NM_001376780.1:c.1560C>G NP_001363709.1:p.Ser520Arg missense NM_001376781.1:c.1548C>G NP_001363710.1:p.Ser516Arg missense NM_001376782.1:c.1536C>G NP_001363711.1:p.Ser512Arg missense NM_001376783.1:c.1533C>G NP_001363712.1:p.Ser511Arg missense NM_001376784.1:c.1454C>G NP_001363713.1:p.Ala485Gly missense NM_001376785.1:c.1518C>G NP_001363714.1:p.Ser506Arg missense NM_001376786.1:c.1397C>G NP_001363715.1:p.Ala466Gly missense NM_001410723.1:c.1752C>G NP_001397652.1:p.Ser584Arg missense NM_001410724.1:c.1529C>G NP_001397653.1:p.Ala510Gly missense NM_032622.3:c.*1482G>C 3 prime UTR NR_164847.1:n.1778C>G non-coding transcript variant NR_164848.1:n.2078C>G non-coding transcript variant NR_164849.1:n.1871C>G non-coding transcript variant NC_000004.12:g.53459425C>G NC_000004.11:g.54325592C>G NG_008644.1:g.86773C>G - Protein change
- S522R, S525R, S526R, S545R, S551R, S554R, S556R, S572R, S573R, S581R, A525G, A535G, S513R, S536R, S558R, S567R, S576R, S596R, A466G, A501G, A510G, S506R, S511R, S531R, S537R, S547R, S561R, S563R, S564R, S587R, S594R, A485G, A514G, A562G, S512R, S516R, S520R, S528R, S549R, S560R, S571R, S584R, S599R
- Other names
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- Canonical SPDI
- NC_000004.12:53459424:C:G
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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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| FIP1L1 | - | - |
GRCh38 GRCh37 |
27 | 54 | |
| LNX1 | - | - |
GRCh38 GRCh37 |
43 | 76 | |
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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Jan 16, 2024 | RCV004386574.1 |
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. |
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Uncertain significance
(Jan 16, 2024)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV004870427.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
The c.1761C>G (p.S587R) alteration is located in exon 18 (coding exon 18) of the FIP1L1 gene. This alteration results from a C to G substitution … (more)
The c.1761C>G (p.S587R) alteration is located in exon 18 (coding exon 18) of the FIP1L1 gene. This alteration results from a C to G substitution at nucleotide position 1761, causing the serine (S) at amino acid position 587 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.1761C>G (p.S587R) alteration is located in exon 18 (coding exon 18) of the FIP1L1 gene. This alteration results from a C to G substitution at nucleotide position 1761, causing the serine (S) at amino acid position 587 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 Sep 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.