The c.1745G>A (p.R582H) alteration is located in exon 22 (coding exon 19) of the FCHO1 gene. This alteration results from a G to A substitution at nucleotide position 1745, causing the arginine (R) at amino acid position 582 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_015122.3(FCHO1):c.1745G>A (p.Arg582His)
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)
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
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_015122.3(FCHO1):c.1745G>A (p.Arg582His)
Variation ID: 2596092 Accession: VCV002596092.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 19p13.11 19: 17781456 (GRCh38) [ NCBI UCSC ] 19: 17892265 (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 Aug 5, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_015122.3:c.1745G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_055937.1:p.Arg582His missense NM_001161357.2:c.1745G>A NP_001154829.1:p.Arg582His missense NM_001161358.2:c.1745G>A NP_001154830.1:p.Arg582His missense NM_001161359.2:c.1595G>A NP_001154831.1:p.Arg532His missense NM_001384370.1:c.1745G>A NP_001371299.1:p.Arg582His missense NM_001384371.1:c.1745G>A NP_001371300.1:p.Arg582His missense NM_001384372.1:c.1745G>A NP_001371301.1:p.Arg582His missense NM_001384373.1:c.1745G>A NP_001371302.1:p.Arg582His missense NM_001384374.1:c.1745G>A NP_001371303.1:p.Arg582His missense NM_001384375.1:c.1745G>A NP_001371304.1:p.Arg582His missense NM_001384376.1:c.1745G>A NP_001371305.1:p.Arg582His missense NM_001384377.1:c.1745G>A NP_001371306.1:p.Arg582His missense NM_001384378.1:c.1745G>A NP_001371307.1:p.Arg582His missense NM_001384379.1:c.1745G>A NP_001371308.1:p.Arg582His missense NM_001384380.1:c.1745G>A NP_001371309.1:p.Arg582His missense NM_001384381.1:c.1745G>A NP_001371310.1:p.Arg582His missense NM_001384384.1:c.1595G>A NP_001371313.1:p.Arg532His missense NM_001384385.1:c.1595G>A NP_001371314.1:p.Arg532His missense NM_001384386.1:c.1595G>A NP_001371315.1:p.Arg532His missense NM_001384387.1:c.1745G>A NP_001371316.1:p.Arg582His missense NM_001384388.1:c.1706G>A NP_001371317.1:p.Arg569His missense NM_001384389.1:c.1706G>A NP_001371318.1:p.Arg569His missense NM_001384390.1:c.1670G>A NP_001371319.1:p.Arg557His missense NM_001384391.1:c.1745G>A NP_001371320.1:p.Arg582His missense NM_001384392.1:c.1628G>A NP_001371321.1:p.Arg543His missense NM_001384393.1:c.1628G>A NP_001371322.1:p.Arg543His missense NM_001384394.1:c.1628G>A NP_001371323.1:p.Arg543His missense NM_001384395.1:c.1628G>A NP_001371324.1:p.Arg543His missense NM_001384396.1:c.1469G>A NP_001371325.1:p.Arg490His missense NM_001384397.1:c.1469G>A NP_001371326.1:p.Arg490His missense NM_001384398.1:c.1469G>A NP_001371327.1:p.Arg490His missense NM_001384399.1:c.1469G>A NP_001371328.1:p.Arg490His missense NM_001384400.1:c.1469G>A NP_001371329.1:p.Arg490His missense NM_001384401.1:c.1469G>A NP_001371330.1:p.Arg490His missense NM_001384402.1:c.1469G>A NP_001371331.1:p.Arg490His missense NM_001384403.1:c.1424G>A NP_001371332.1:p.Arg475His missense NM_001384404.1:c.1469G>A NP_001371333.1:p.Arg490His missense NM_001384405.1:c.1706G>A NP_001371334.1:p.Arg569His missense NM_001384406.1:c.1319G>A NP_001371335.1:p.Arg440His missense NM_001384407.1:c.1175G>A NP_001371336.1:p.Arg392His missense NR_169219.1:n.2002G>A non-coding transcript variant NR_169220.1:n.1816G>A non-coding transcript variant NR_169221.1:n.1757G>A non-coding transcript variant NR_169222.1:n.1925G>A non-coding transcript variant NR_169223.1:n.1728G>A non-coding transcript variant NR_169224.1:n.1638G>A non-coding transcript variant NR_169225.1:n.2205G>A non-coding transcript variant NR_169226.1:n.1908G>A non-coding transcript variant NR_169227.1:n.1999G>A non-coding transcript variant NR_169228.1:n.1837G>A non-coding transcript variant NR_169229.1:n.2198G>A non-coding transcript variant NR_169230.1:n.1735G>A non-coding transcript variant NR_169231.1:n.1884G>A non-coding transcript variant NR_169232.1:n.2275G>A non-coding transcript variant NR_169233.1:n.1812G>A non-coding transcript variant NR_169234.1:n.2278G>A non-coding transcript variant NR_169235.1:n.1625G>A non-coding transcript variant NR_169236.1:n.2201G>A non-coding transcript variant NR_169238.1:n.1911G>A non-coding transcript variant NR_169239.1:n.2184G>A non-coding transcript variant NR_169240.1:n.1831G>A non-coding transcript variant NR_169246.1:n.1726G>A non-coding transcript variant NR_169247.1:n.1907G>A non-coding transcript variant NR_169248.1:n.1998G>A non-coding transcript variant NR_169249.1:n.1685G>A non-coding transcript variant NR_169250.1:n.1626G>A non-coding transcript variant NR_169251.1:n.2107G>A non-coding transcript variant NR_169252.1:n.1961G>A non-coding transcript variant NR_169253.1:n.1656G>A non-coding transcript variant NR_169254.1:n.2028G>A non-coding transcript variant NR_169255.1:n.1660G>A non-coding transcript variant NR_169256.1:n.2032G>A non-coding transcript variant NR_169257.1:n.1931G>A non-coding transcript variant NR_169258.1:n.1776G>A non-coding transcript variant NR_169259.1:n.1958G>A non-coding transcript variant NR_169260.1:n.2231G>A non-coding transcript variant NC_000019.10:g.17781456G>A NC_000019.9:g.17892265G>A - Protein change
- R475H, R532H, R569H, R543H, R392H, R440H, R490H, R582H, R557H
- Other names
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- Canonical SPDI
- NC_000019.10:17781455: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 | ||
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| 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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| FCHO1 | - | - |
GRCh38 GRCh37 |
643 | 671 | |
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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Aug 5, 2023 | RCV004338269.1 |
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
(Aug 05, 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: SCV004066923.2
First in ClinVar: Oct 28, 2023 Last updated: May 01, 2024 |
Comment:
The c.1745G>A (p.R582H) alteration is located in exon 22 (coding exon 19) of the FCHO1 gene. This alteration results from a G to A substitution … (more)
The c.1745G>A (p.R582H) alteration is located in exon 22 (coding exon 19) of the FCHO1 gene. This alteration results from a G to A substitution at nucleotide position 1745, causing the arginine (R) at amino acid position 582 to be replaced by a histidine (H). 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.1745G>A (p.R582H) alteration is located in exon 22 (coding exon 19) of the FCHO1 gene. This alteration results from a G to A substitution at nucleotide position 1745, causing the arginine (R) at amino acid position 582 to be replaced by a histidine (H). 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 Nov 10, 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.