ClinVar Genomic variation as it relates to human health
NM_001385875.1(ZFYVE27):c.1078C>G (p.Leu360Val)
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_001385875.1(ZFYVE27):c.1078C>G (p.Leu360Val)
Variation ID: 1709552 Accession: VCV001709552.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 10q24.2 10: 99517057 (GRCh37) [ NCBI UCSC ] 10: 97757300 (GRCh38) [ 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 15, 2022 Oct 15, 2022 Jul 19, 2022 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001385875.1:c.1078C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001372804.1:p.Leu360Val missense NM_001002261.4:c.1093C>G NP_001002261.1:p.Leu365Val missense NM_001002262.4:c.1057C>G NP_001002262.1:p.Leu353Val missense NM_001174119.2:c.961C>G NP_001167590.1:p.Leu321Val missense NM_001174120.2:c.799C>G NP_001167591.1:p.Leu267Val missense NM_001174121.2:c.778C>G NP_001167592.1:p.Leu260Val missense NM_001174122.2:c.703C>G NP_001167593.1:p.Leu235Val missense NM_001385871.1:c.1093C>G NP_001372800.1:p.Leu365Val missense NM_001385876.1:c.1111C>G NP_001372805.1:p.Leu371Val missense NM_001385877.1:c.1075C>G NP_001372806.1:p.Leu359Val missense NM_001385878.1:c.1072C>G NP_001372807.1:p.Leu358Val missense NM_001385879.1:c.1072C>G NP_001372808.1:p.Leu358Val missense NM_001385880.1:c.1057C>G NP_001372809.1:p.Leu353Val missense NM_001385881.1:c.1057C>G NP_001372810.1:p.Leu353Val missense NM_001385882.1:c.1072C>G NP_001372811.1:p.Leu358Val missense NM_001385883.1:c.1057C>G NP_001372812.1:p.Leu353Val missense NM_001385884.1:c.1057C>G NP_001372813.1:p.Leu353Val missense NM_001385885.1:c.997C>G NP_001372814.1:p.Leu333Val missense NM_001385886.1:c.976C>G NP_001372815.1:p.Leu326Val missense NM_001385887.1:c.976C>G NP_001372816.1:p.Leu326Val missense NM_001385888.1:c.976C>G NP_001372817.1:p.Leu326Val missense NM_001385889.1:c.961C>G NP_001372818.1:p.Leu321Val missense NM_001385890.1:c.889C>G NP_001372819.1:p.Leu297Val missense NM_001385891.1:c.889C>G NP_001372820.1:p.Leu297Val missense NM_001385892.1:c.874C>G NP_001372821.1:p.Leu292Val missense NM_001385893.1:c.868C>G NP_001372822.1:p.Leu290Val missense NM_001385894.1:c.868C>G NP_001372823.1:p.Leu290Val missense NM_001385895.1:c.868C>G NP_001372824.1:p.Leu290Val missense NM_001385896.1:c.853C>G NP_001372825.1:p.Leu285Val missense NM_001385897.1:c.853C>G NP_001372826.1:p.Leu285Val missense NM_001385898.1:c.853C>G NP_001372827.1:p.Leu285Val missense NM_001385899.1:c.841C>G NP_001372828.1:p.Leu281Val missense NM_001385900.1:c.841C>G NP_001372829.1:p.Leu281Val missense NM_001385901.1:c.835C>G NP_001372830.1:p.Leu279Val missense NM_001385902.1:c.835C>G NP_001372831.1:p.Leu279Val missense NM_001385903.1:c.835C>G NP_001372832.1:p.Leu279Val missense NM_001385904.1:c.835C>G NP_001372833.1:p.Leu279Val missense NM_001385905.1:c.820C>G NP_001372834.1:p.Leu274Val missense NM_001385906.1:c.820C>G NP_001372835.1:p.Leu274Val missense NM_001385908.1:c.820C>G NP_001372837.1:p.Leu274Val missense NM_001385911.1:c.814C>G NP_001372840.1:p.Leu272Val missense NM_001385915.1:c.778C>G NP_001372844.1:p.Leu260Val missense NM_001385916.1:c.724C>G NP_001372845.1:p.Leu242Val missense NM_001385917.1:c.724C>G NP_001372846.1:p.Leu242Val missense NM_001385918.1:c.724C>G NP_001372847.1:p.Leu242Val missense NM_001385919.1:c.424C>G NP_001372848.1:p.Leu142Val missense NM_144588.7:c.1078C>G NP_653189.3:p.Leu360Val missense NR_169794.1:n.1248C>G non-coding transcript variant NR_169795.1:n.1185C>G non-coding transcript variant NR_169797.1:n.1039C>G non-coding transcript variant NR_169798.1:n.1252C>G non-coding transcript variant NR_169799.1:n.873C>G non-coding transcript variant NR_169800.1:n.831C>G non-coding transcript variant NR_169801.1:n.1399C>G non-coding transcript variant NR_169802.1:n.1045C>G non-coding transcript variant NR_169803.1:n.1359C>G non-coding transcript variant NR_169804.1:n.1245C>G non-coding transcript variant NR_169805.1:n.1388C>G non-coding transcript variant NR_169806.1:n.1256C>G non-coding transcript variant NR_169808.1:n.1284C>G non-coding transcript variant NR_169809.1:n.1313C>G non-coding transcript variant NR_169810.1:n.1384C>G non-coding transcript variant NR_169811.1:n.1231C>G non-coding transcript variant NC_000010.11:g.97757300C>G NC_000010.10:g.99517057C>G NG_017075.1:g.25180C>G - Protein change
- L142V, L235V, L242V, L260V, L267V, L272V, L274V, L279V, L281V, L285V, L290V, L292V, L297V, L321V, L326V, L333V, L353V, L358V, L359V, L360V, L365V, L371V
- Other names
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- Canonical SPDI
- NC_000010.11:97757299: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
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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 | ||
|---|---|---|---|---|---|---|
| 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
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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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| ZFYVE27 | - | - |
GRCh38 GRCh37 |
189 | 212 | |
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
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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. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
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Jul 19, 2022 | RCV002289367.2 |
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
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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
(Jul 19, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary spastic paraplegia 33
Affected status: yes
Allele origin:
germline
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MGZ Medical Genetics Center
Accession: SCV002580178.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022
Comment:
ACMG criteria applied: PM2_SUP, BP4
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Number of individuals with the variant: 1
Sex: female
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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
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 08, 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.