ClinVar Genomic variation as it relates to human health
NM_001385875.1(ZFYVE27):c.800C>T (p.Thr267Met)
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.800C>T (p.Thr267Met)
Variation ID: 212641 Accession: VCV000212641.8
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 10q24.2 10: 97750466 (GRCh38) [ NCBI UCSC ] 10: 99510223 (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 5, 2015 May 1, 2024 Aug 28, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001385875.1:c.800C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001372804.1:p.Thr267Met missense NM_001002261.4:c.800C>T NP_001002261.1:p.Thr267Met missense NM_001002262.4:c.800C>T NP_001002262.1:p.Thr267Met missense NM_001174119.2:c.704C>T NP_001167590.1:p.Thr235Met missense NM_001174120.2:c.542C>T NP_001167591.1:p.Thr181Met missense NM_001174121.2:c.506C>T NP_001167592.1:p.Thr169Met missense NM_001174122.2:c.446C>T NP_001167593.1:p.Thr149Met missense NM_001385871.1:c.800C>T NP_001372800.1:p.Thr267Met missense NM_001385876.1:c.839C>T NP_001372805.1:p.Thr280Met missense NM_001385877.1:c.800C>T NP_001372806.1:p.Thr267Met missense NM_001385878.1:c.800C>T NP_001372807.1:p.Thr267Met missense NM_001385879.1:c.800C>T NP_001372808.1:p.Thr267Met missense NM_001385880.1:c.800C>T NP_001372809.1:p.Thr267Met missense NM_001385881.1:c.764C>T NP_001372810.1:p.Thr255Met missense NM_001385882.1:c.800C>T NP_001372811.1:p.Thr267Met missense NM_001385883.1:c.800C>T NP_001372812.1:p.Thr267Met missense NM_001385884.1:c.800C>T NP_001372813.1:p.Thr267Met missense NM_001385885.1:c.704C>T NP_001372814.1:p.Thr235Met missense NM_001385886.1:c.704C>T NP_001372815.1:p.Thr235Met missense NM_001385887.1:c.704C>T NP_001372816.1:p.Thr235Met missense NM_001385888.1:c.704C>T NP_001372817.1:p.Thr235Met missense NM_001385889.1:c.704C>T NP_001372818.1:p.Thr235Met missense NM_001385890.1:c.596C>T NP_001372819.1:p.Thr199Met missense NM_001385891.1:c.596C>T NP_001372820.1:p.Thr199Met missense NM_001385892.1:c.596C>T NP_001372821.1:p.Thr199Met missense NM_001385893.1:c.596C>T NP_001372822.1:p.Thr199Met missense NM_001385894.1:c.596C>T NP_001372823.1:p.Thr199Met missense NM_001385895.1:c.596C>T NP_001372824.1:p.Thr199Met missense NM_001385896.1:c.596C>T NP_001372825.1:p.Thr199Met missense NM_001385897.1:c.596C>T NP_001372826.1:p.Thr199Met missense NM_001385898.1:c.596C>T NP_001372827.1:p.Thr199Met missense NM_001385899.1:c.563C>T NP_001372828.1:p.Thr188Met missense NM_001385900.1:c.563C>T NP_001372829.1:p.Thr188Met missense NM_001385901.1:c.542C>T NP_001372830.1:p.Thr181Met missense NM_001385902.1:c.542C>T NP_001372831.1:p.Thr181Met missense NM_001385903.1:c.563C>T NP_001372832.1:p.Thr188Met missense NM_001385904.1:c.563C>T NP_001372833.1:p.Thr188Met missense NM_001385905.1:c.563C>T NP_001372834.1:p.Thr188Met missense NM_001385906.1:c.542C>T NP_001372835.1:p.Thr181Met missense NM_001385908.1:c.542C>T NP_001372837.1:p.Thr181Met missense NM_001385911.1:c.542C>T NP_001372840.1:p.Thr181Met missense NM_001385915.1:c.506C>T NP_001372844.1:p.Thr169Met missense NM_001385916.1:c.467C>T NP_001372845.1:p.Thr156Met missense NM_001385918.1:c.446C>T NP_001372847.1:p.Thr149Met missense NM_001385919.1:c.167C>T NP_001372848.1:p.Thr56Met missense NM_144588.7:c.800C>T NP_653189.3:p.Thr267Met missense NR_169794.1:n.970C>T non-coding transcript variant NR_169795.1:n.928C>T non-coding transcript variant NR_169796.1:n.995C>T non-coding transcript variant NR_169797.1:n.761C>T non-coding transcript variant NR_169798.1:n.959C>T non-coding transcript variant NR_169799.1:n.616C>T non-coding transcript variant NR_169801.1:n.995C>T non-coding transcript variant NR_169802.1:n.641C>T non-coding transcript variant NR_169803.1:n.970C>T non-coding transcript variant NR_169804.1:n.988C>T non-coding transcript variant NR_169805.1:n.999C>T non-coding transcript variant NR_169806.1:n.984C>T non-coding transcript variant NR_169808.1:n.1027C>T non-coding transcript variant NR_169809.1:n.924C>T non-coding transcript variant NR_169810.1:n.995C>T non-coding transcript variant NR_169811.1:n.959C>T non-coding transcript variant NC_000010.11:g.97750466C>T NC_000010.10:g.99510223C>T NG_017075.1:g.18346C>T - Protein change
- T267M, T169M, T181M, T149M, T235M, T156M, T188M, T199M, T255M, T280M, T56M
- Other names
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- Canonical SPDI
- NC_000010.11:97750465: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.
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00004
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00008
The Genome Aggregation Database (gnomAD) 0.00009
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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ZFYVE27 | - | - |
GRCh38 GRCh37 |
187 | 210 |
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. |
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Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
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Aug 28, 2023 | RCV000194065.7 |
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
(Apr 05, 2015)
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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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Genetic Services Laboratory, University of Chicago
Accession: SCV000249495.1
First in ClinVar: Oct 05, 2015 Last updated: Oct 05, 2015 |
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Uncertain significance
(Aug 28, 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: SCV004057440.2
First in ClinVar: Oct 28, 2023 Last updated: May 01, 2024 |
Comment:
The c.800C>T (p.T267M) alteration is located in exon 6 (coding exon 6) of the ZFYVE27 gene. This alteration results from a C to T substitution … (more)
The c.800C>T (p.T267M) alteration is located in exon 6 (coding exon 6) of the ZFYVE27 gene. This alteration results from a C to T substitution at nucleotide position 800, causing the threonine (T) at amino acid position 267 to be replaced by a methionine (M). 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 rs376664624 ...
HelpRecord last updated Jul 07, 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.