NM_001385875.1(ZFYVE27):c.800C>T (p.Thr267Met) AND not specified
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Aug 28, 2023
- Review status:
- 2 stars out of maximum of 4 starscriteria provided, multiple submitters, no conflicts
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000194065.7
Allele description [Variation Report for NM_001385875.1(ZFYVE27):c.800C>T (p.Thr267Met)]
NM_001385875.1(ZFYVE27):c.800C>T (p.Thr267Met)
- Gene:
- ZFYVE27:zinc finger FYVE-type containing 27 [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 10q24.2
- Genomic location:
- Preferred name:
- NM_001385875.1(ZFYVE27):c.800C>T (p.Thr267Met)
- HGVS:
- NC_000010.11:g.97750466C>T
- NG_017075.1:g.18346C>T
- NM_001002261.4:c.800C>T
- NM_001002262.4:c.800C>T
- NM_001174119.2:c.704C>T
- NM_001174120.2:c.542C>T
- NM_001174121.2:c.506C>T
- NM_001174122.2:c.446C>T
- NM_001385871.1:c.800C>T
- NM_001385875.1:c.800C>TMANE SELECT
- NM_001385876.1:c.839C>T
- NM_001385877.1:c.800C>T
- NM_001385878.1:c.800C>T
- NM_001385879.1:c.800C>T
- NM_001385880.1:c.800C>T
- NM_001385881.1:c.764C>T
- NM_001385882.1:c.800C>T
- NM_001385883.1:c.800C>T
- NM_001385884.1:c.800C>T
- NM_001385885.1:c.704C>T
- NM_001385886.1:c.704C>T
- NM_001385887.1:c.704C>T
- NM_001385888.1:c.704C>T
- NM_001385889.1:c.704C>T
- NM_001385890.1:c.596C>T
- NM_001385891.1:c.596C>T
- NM_001385892.1:c.596C>T
- NM_001385893.1:c.596C>T
- NM_001385894.1:c.596C>T
- NM_001385895.1:c.596C>T
- NM_001385896.1:c.596C>T
- NM_001385897.1:c.596C>T
- NM_001385898.1:c.596C>T
- NM_001385899.1:c.563C>T
- NM_001385900.1:c.563C>T
- NM_001385901.1:c.542C>T
- NM_001385902.1:c.542C>T
- NM_001385903.1:c.563C>T
- NM_001385904.1:c.563C>T
- NM_001385905.1:c.563C>T
- NM_001385906.1:c.542C>T
- NM_001385908.1:c.542C>T
- NM_001385911.1:c.542C>T
- NM_001385915.1:c.506C>T
- NM_001385916.1:c.467C>T
- NM_001385918.1:c.446C>T
- NM_001385919.1:c.167C>T
- NM_144588.7:c.800C>T
- NP_001002261.1:p.Thr267Met
- NP_001002261.1:p.Thr267Met
- NP_001002262.1:p.Thr267Met
- NP_001167590.1:p.Thr235Met
- NP_001167591.1:p.Thr181Met
- NP_001167592.1:p.Thr169Met
- NP_001167593.1:p.Thr149Met
- NP_001372800.1:p.Thr267Met
- NP_001372804.1:p.Thr267Met
- NP_001372805.1:p.Thr280Met
- NP_001372806.1:p.Thr267Met
- NP_001372807.1:p.Thr267Met
- NP_001372808.1:p.Thr267Met
- NP_001372809.1:p.Thr267Met
- NP_001372810.1:p.Thr255Met
- NP_001372811.1:p.Thr267Met
- NP_001372812.1:p.Thr267Met
- NP_001372813.1:p.Thr267Met
- NP_001372814.1:p.Thr235Met
- NP_001372815.1:p.Thr235Met
- NP_001372816.1:p.Thr235Met
- NP_001372817.1:p.Thr235Met
- NP_001372818.1:p.Thr235Met
- NP_001372819.1:p.Thr199Met
- NP_001372820.1:p.Thr199Met
- NP_001372821.1:p.Thr199Met
- NP_001372822.1:p.Thr199Met
- NP_001372823.1:p.Thr199Met
- NP_001372824.1:p.Thr199Met
- NP_001372825.1:p.Thr199Met
- NP_001372826.1:p.Thr199Met
- NP_001372827.1:p.Thr199Met
- NP_001372828.1:p.Thr188Met
- NP_001372829.1:p.Thr188Met
- NP_001372830.1:p.Thr181Met
- NP_001372831.1:p.Thr181Met
- NP_001372832.1:p.Thr188Met
- NP_001372833.1:p.Thr188Met
- NP_001372834.1:p.Thr188Met
- NP_001372835.1:p.Thr181Met
- NP_001372837.1:p.Thr181Met
- NP_001372840.1:p.Thr181Met
- NP_001372844.1:p.Thr169Met
- NP_001372845.1:p.Thr156Met
- NP_001372847.1:p.Thr149Met
- NP_001372848.1:p.Thr56Met
- NP_653189.3:p.Thr267Met
- NC_000010.10:g.99510223C>T
- NM_001002261.3:c.800C>T
- NR_169794.1:n.970C>T
- NR_169795.1:n.928C>T
- NR_169796.1:n.995C>T
- NR_169797.1:n.761C>T
- NR_169798.1:n.959C>T
- NR_169799.1:n.616C>T
- NR_169801.1:n.995C>T
- NR_169802.1:n.641C>T
- NR_169803.1:n.970C>T
- NR_169804.1:n.988C>T
- NR_169805.1:n.999C>T
- NR_169806.1:n.984C>T
- NR_169808.1:n.1027C>T
- NR_169809.1:n.924C>T
- NR_169810.1:n.995C>T
- NR_169811.1:n.959C>T
This HGVS expression did not pass validation- Protein change:
- T149M
- Links:
- dbSNP: rs376664624
- NCBI 1000 Genomes Browser:
- rs376664624
- Molecular consequence:
- NM_001002261.4:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001002262.4:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001174119.2:c.704C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001174120.2:c.542C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001174121.2:c.506C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001174122.2:c.446C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385871.1:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385875.1:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385876.1:c.839C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385877.1:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385878.1:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385879.1:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385880.1:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385881.1:c.764C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385882.1:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385883.1:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385884.1:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385885.1:c.704C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385886.1:c.704C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385887.1:c.704C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385888.1:c.704C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385889.1:c.704C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385890.1:c.596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385891.1:c.596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385892.1:c.596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385893.1:c.596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385894.1:c.596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385895.1:c.596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385896.1:c.596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385897.1:c.596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385898.1:c.596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385899.1:c.563C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385900.1:c.563C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385901.1:c.542C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385902.1:c.542C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385903.1:c.563C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385904.1:c.563C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385905.1:c.563C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385906.1:c.542C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385908.1:c.542C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385911.1:c.542C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385915.1:c.506C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385916.1:c.467C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385918.1:c.446C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385919.1:c.167C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_144588.7:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
- NR_169794.1:n.970C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169795.1:n.928C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169796.1:n.995C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169797.1:n.761C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169798.1:n.959C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169799.1:n.616C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169801.1:n.995C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169802.1:n.641C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169803.1:n.970C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169804.1:n.988C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169805.1:n.999C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169806.1:n.984C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169808.1:n.1027C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169809.1:n.924C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169810.1:n.995C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169811.1:n.959C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
| Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
|---|---|---|---|---|---|---|
| SCV000249495 | Genetic Services Laboratory, University of Chicago | criteria provided, single submitter (ACMG Guidelines, 2015) | Uncertain significance (Apr 5, 2015) | germline | clinical testing | |
| SCV004057440 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (Aug 28, 2023) | germline | clinical testing |
Summary from all submissions
| Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
|---|---|---|---|---|---|---|---|---|
| not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
PubMed [citation]
- PMID:
- 25741868
- PMCID:
- PMC4544753
Details of each submission
From Genetic Services Laboratory, University of Chicago, SCV000249495.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From Ambry Genetics, SCV004057440.2
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
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.
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
Last Updated: Oct 26, 2024