ClinVar Genomic variation as it relates to human health
NM_001366781.1(ODF2L):c.1789G>T (p.Val597Phe)
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_001366781.1(ODF2L):c.1789G>T (p.Val597Phe)
Variation ID: 3302180 Accession: VCV003302180.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 1p22.3 1: 86352876 (GRCh38) [ NCBI UCSC ] 1: 86818559 (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 Aug 11, 2024 Aug 11, 2024 Apr 20, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001366781.1:c.1789G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001353710.1:p.Val597Phe missense NM_001007022.4:c.1876G>T NP_001007023.2:p.Val626Phe missense NM_001184765.2:c.1717G>T NP_001171694.1:p.Val573Phe missense NM_001184766.2:c.1630G>T NP_001171695.1:p.Val544Phe missense NM_001366779.1:c.1396G>T NP_001353708.1:p.Val466Phe missense NM_001366782.1:c.1396G>T NP_001353711.1:p.Val466Phe missense NM_001366783.2:c.1789G>T NP_001353712.1:p.Val597Phe missense NM_001366784.1:c.1789G>T NP_001353713.1:p.Val597Phe missense NM_001395519.1:c.1672G>T NP_001382448.1:p.Val558Phe missense NM_001395520.1:c.1672G>T NP_001382449.1:p.Val558Phe missense NM_001395521.1:c.1630G>T NP_001382450.1:p.Val544Phe missense NM_001395522.1:c.1630G>T NP_001382451.1:p.Val544Phe missense NM_001395523.1:c.1513G>T NP_001382452.1:p.Val505Phe missense NM_001395524.1:c.1513G>T NP_001382453.1:p.Val505Phe missense NM_001395525.1:c.1396G>T NP_001382454.1:p.Val466Phe missense NM_001395526.1:c.1396G>T NP_001382455.1:p.Val466Phe missense NM_001395527.1:c.1396G>T NP_001382456.1:p.Val466Phe missense NM_001395528.1:c.1396G>T NP_001382457.1:p.Val466Phe missense NM_001395529.1:c.1354G>T NP_001382458.1:p.Val452Phe missense NM_001395530.1:c.1324G>T NP_001382459.1:p.Val442Phe missense NM_001395531.1:c.1324G>T NP_001382460.1:p.Val442Phe missense NM_001395532.1:c.1396G>T NP_001382461.1:p.Val466Phe missense NM_001395533.1:c.1396G>T NP_001382462.1:p.Val466Phe missense NM_001395534.1:c.1237G>T NP_001382463.1:p.Val413Phe missense NM_001395535.1:c.1237G>T NP_001382464.1:p.Val413Phe missense NM_001395536.1:c.1237G>T NP_001382465.1:p.Val413Phe missense NM_001395537.1:c.1237G>T NP_001382466.1:p.Val413Phe missense NM_001395538.1:c.1279G>T NP_001382467.1:p.Val427Phe missense NM_001395539.1:c.1279G>T NP_001382468.1:p.Val427Phe missense NM_001395540.1:c.1237G>T NP_001382469.1:p.Val413Phe missense NM_001395541.1:c.1120G>T NP_001382470.1:p.Val374Phe missense NM_001395542.1:c.1207G>T NP_001382471.1:p.Val403Phe missense NM_001395543.1:c.1120G>T NP_001382472.1:p.Val374Phe missense NM_001395544.1:c.1120G>T NP_001382473.1:p.Val374Phe missense NM_020729.4:c.1828G>T NP_065780.2:p.Val610Phe missense NC_000001.11:g.86352876C>A NC_000001.10:g.86818559C>A - Protein change
- V413F, V427F, V442F, V544F, V597F, V374F, V403F, V466F, V573F, V610F, V505F, V452F, V558F, V626F
- Other names
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- Canonical SPDI
- NC_000001.11:86352875:C: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
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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
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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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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ODF2L | - | - |
GRCh38 GRCh37 |
45 | 62 |
Conditions - Germline
Condition
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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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Apr 20, 2024 | RCV004646109.1 |
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
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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
(Apr 20, 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: SCV005143460.1
First in ClinVar: Aug 11, 2024 Last updated: Aug 11, 2024 |
Comment:
The c.1876G>T (p.V626F) alteration is located in exon 17 (coding exon 16) of the ODF2L gene. This alteration results from a G to T substitution … (more)
The c.1876G>T (p.V626F) alteration is located in exon 17 (coding exon 16) of the ODF2L gene. This alteration results from a G to T substitution at nucleotide position 1876, causing the valine (V) at amino acid position 626 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (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 Aug 11, 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.