The c.1730C>T (p.A577V) alteration is located in exon 18 (coding exon 18) of the FIP1L1 gene. This alteration results from a C to T substitution at nucleotide position 1730, causing the alanine (A) at amino acid position 577 to be replaced by a valine (V). 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.1730C>T (p.Ala577Val)
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.
(2)
Help
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
2
criteria provided, multiple submitters, no conflicts
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.1730C>T (p.Ala577Val)
Variation ID: 2591135 Accession: VCV002591135.12
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 4q12 4: 53459394 (GRCh38) [ NCBI UCSC ] 4: 54325561 (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 Oct 20, 2024 Jul 25, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001126328.3:c.*1513G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
3 prime UTR NM_030917.4:c.1730C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_112179.2:p.Ala577Val missense NM_001134937.2:c.1712C>T NP_001128409.1:p.Ala571Val missense NM_001134938.2:c.1508C>T NP_001128410.1:p.Ala503Val missense NM_001376744.1:c.1766C>T NP_001363673.1:p.Ala589Val missense NM_001376745.1:c.1757C>T NP_001363674.1:p.Ala586Val missense NM_001376746.1:c.1751C>T NP_001363675.1:p.Ala584Val missense NM_001376747.1:c.1654C>T NP_001363676.1:p.Arg552Trp missense NM_001376748.1:c.1697C>T NP_001363677.1:p.Ala566Val missense NM_001376749.1:c.1688C>T NP_001363678.1:p.Ala563Val missense NM_001376750.1:c.1685C>T NP_001363679.1:p.Ala562Val missense NM_001376751.1:c.1682C>T NP_001363680.1:p.Ala561Val missense NM_001376752.1:c.1682C>T NP_001363681.1:p.Ala561Val missense NM_001376753.1:c.1670C>T NP_001363682.1:p.Ala557Val missense NM_001376754.1:c.1661C>T NP_001363683.1:p.Ala554Val missense NM_001376755.1:c.1658C>T NP_001363684.1:p.Ala553Val missense NM_001376756.1:c.1658C>T NP_001363685.1:p.Ala553Val missense NM_001376757.1:c.1573C>T NP_001363686.1:p.Arg525Trp missense NM_001376758.1:c.1652C>T NP_001363687.1:p.Ala551Val missense NM_001376759.1:c.1649C>T NP_001363688.1:p.Ala550Val missense NM_001376760.1:c.1643C>T NP_001363689.1:p.Ala548Val missense NM_001376761.1:c.1643C>T NP_001363690.1:p.Ala548Val missense NM_001376762.1:c.1637C>T NP_001363691.1:p.Ala546Val missense NM_001376764.1:c.1631C>T NP_001363693.1:p.Ala544Val missense NM_001376765.1:c.1622C>T NP_001363694.1:p.Ala541Val missense NM_001376766.1:c.1543C>T NP_001363695.1:p.Arg515Trp missense NM_001376767.1:c.1616C>T NP_001363696.1:p.Ala539Val missense NM_001376768.1:c.1610C>T NP_001363697.1:p.Ala537Val missense NM_001376769.1:c.1604C>T NP_001363698.1:p.Ala535Val missense NM_001376770.1:c.1510C>T NP_001363699.1:p.Arg504Trp missense NM_001376771.1:c.1580C>T NP_001363700.1:p.Ala527Val missense NM_001376772.1:c.1580C>T NP_001363701.1:p.Ala527Val missense NM_001376773.1:c.1577C>T NP_001363702.1:p.Ala526Val missense NM_001376774.1:c.1562C>T NP_001363703.1:p.Ala521Val missense NM_001376775.1:c.1553C>T NP_001363704.1:p.Ala518Val missense NM_001376776.1:c.1471C>T NP_001363705.1:p.Arg491Trp missense NM_001376777.1:c.1547C>T NP_001363706.1:p.Ala516Val missense NM_001376778.1:c.1544C>T NP_001363707.1:p.Ala515Val missense NM_001376779.1:c.1535C>T NP_001363708.1:p.Ala512Val missense NM_001376780.1:c.1529C>T NP_001363709.1:p.Ala510Val missense NM_001376781.1:c.1517C>T NP_001363710.1:p.Ala506Val missense NM_001376782.1:c.1505C>T NP_001363711.1:p.Ala502Val missense NM_001376783.1:c.1502C>T NP_001363712.1:p.Ala501Val missense NM_001376784.1:c.1423C>T NP_001363713.1:p.Arg475Trp missense NM_001376785.1:c.1487C>T NP_001363714.1:p.Ala496Val missense NM_001376786.1:c.1366C>T NP_001363715.1:p.Arg456Trp missense NM_001410723.1:c.1721C>T NP_001397652.1:p.Ala574Val missense NM_001410724.1:c.1498C>T NP_001397653.1:p.Arg500Trp missense NM_032622.3:c.*1513G>A 3 prime UTR NR_164847.1:n.1747C>T non-coding transcript variant NR_164848.1:n.2047C>T non-coding transcript variant NR_164849.1:n.1840C>T non-coding transcript variant NC_000004.12:g.53459394C>T NC_000004.11:g.54325561C>T NG_008644.1:g.86742C>T - Protein change
- A501V, A502V, A510V, A516V, A526V, A537V, A541V, A553V, A557V, A562V, A496V, A521V, A535V, A539V, A561V, A563V, A566V, A589V, R475W, R500W, R515W, A512V, A515V, A527V, A544V, A550V, A577V, R491W, R504W, R552W, A574V, A584V, A586V, R456W, R525W, A503V, A506V, A518V, A546V, A548V, A551V, A554V, A571V
- Other names
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- Canonical SPDI
- NC_000004.12:53459393:C:T
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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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Nov 1, 2022 | RCV003436022.10 | |
| Uncertain significance (1) |
criteria provided, single submitter
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Jul 25, 2023 | RCV004334929.1 |
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
(Jul 25, 2023)
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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: SCV004059419.2
First in ClinVar: Oct 28, 2023 Last updated: May 01, 2024 |
Comment:
The c.1730C>T (p.A577V) alteration is located in exon 18 (coding exon 18) of the FIP1L1 gene. This alteration results from a C to T substitution … (more)
The c.1730C>T (p.A577V) alteration is located in exon 18 (coding exon 18) of the FIP1L1 gene. This alteration results from a C to T substitution at nucleotide position 1730, causing the alanine (A) at amino acid position 577 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less)
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Uncertain significance
(Nov 01, 2022)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV004150632.10
First in ClinVar: Nov 20, 2023 Last updated: Oct 20, 2024 |
Comment:
FIP1L1: PP3
Number of individuals with the variant: 1
|
Comment:
Comment:
FIP1L1: PP3
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.1730C>T (p.A577V) alteration is located in exon 18 (coding exon 18) of the FIP1L1 gene. This alteration results from a C to T substitution at nucleotide position 1730, causing the alanine (A) at amino acid position 577 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Comment:
FIP1L1: PP3
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 Oct 27, 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.