NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val) AND not provided
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 4, 2021
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- 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:
- RCV001723530.2
Allele description [Variation Report for NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val)]
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val)
- 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.572G>T (p.Gly191Val)
- HGVS:
- NC_000010.11:g.97749494G>T
- NG_017075.1:g.17374G>T
- NM_001002261.4:c.572G>T
- NM_001002262.4:c.572G>T
- NM_001174119.2:c.476G>T
- NM_001174120.2:c.314G>T
- NM_001174121.2:c.278G>T
- NM_001174122.2:c.218G>T
- NM_001385871.1:c.572G>T
- NM_001385875.1:c.572G>TMANE SELECT
- NM_001385876.1:c.611G>T
- NM_001385877.1:c.572G>T
- NM_001385878.1:c.572G>T
- NM_001385879.1:c.572G>T
- NM_001385880.1:c.572G>T
- NM_001385881.1:c.536G>T
- NM_001385882.1:c.572G>T
- NM_001385883.1:c.572G>T
- NM_001385884.1:c.572G>T
- NM_001385885.1:c.476G>T
- NM_001385886.1:c.476G>T
- NM_001385887.1:c.476G>T
- NM_001385888.1:c.476G>T
- NM_001385889.1:c.476G>T
- NM_001385890.1:c.368G>T
- NM_001385891.1:c.368G>T
- NM_001385892.1:c.368G>T
- NM_001385893.1:c.368G>T
- NM_001385894.1:c.368G>T
- NM_001385895.1:c.368G>T
- NM_001385896.1:c.368G>T
- NM_001385897.1:c.368G>T
- NM_001385898.1:c.368G>T
- NM_001385899.1:c.335G>T
- NM_001385900.1:c.335G>T
- NM_001385901.1:c.314G>T
- NM_001385902.1:c.314G>T
- NM_001385903.1:c.335G>T
- NM_001385904.1:c.335G>T
- NM_001385905.1:c.335G>T
- NM_001385906.1:c.314G>T
- NM_001385908.1:c.314G>T
- NM_001385911.1:c.314G>T
- NM_001385915.1:c.278G>T
- NM_001385916.1:c.239G>T
- NM_001385918.1:c.218G>T
- NM_001385919.1:c.32-837G>T
- NM_144588.7:c.572G>T
- NP_001002261.1:p.Gly191Val
- NP_001002261.1:p.Gly191Val
- NP_001002262.1:p.Gly191Val
- NP_001167590.1:p.Gly159Val
- NP_001167591.1:p.Gly105Val
- NP_001167592.1:p.Gly93Val
- NP_001167593.1:p.Gly73Val
- NP_001372800.1:p.Gly191Val
- NP_001372804.1:p.Gly191Val
- NP_001372805.1:p.Gly204Val
- NP_001372806.1:p.Gly191Val
- NP_001372807.1:p.Gly191Val
- NP_001372808.1:p.Gly191Val
- NP_001372809.1:p.Gly191Val
- NP_001372810.1:p.Gly179Val
- NP_001372811.1:p.Gly191Val
- NP_001372812.1:p.Gly191Val
- NP_001372813.1:p.Gly191Val
- NP_001372814.1:p.Gly159Val
- NP_001372815.1:p.Gly159Val
- NP_001372816.1:p.Gly159Val
- NP_001372817.1:p.Gly159Val
- NP_001372818.1:p.Gly159Val
- NP_001372819.1:p.Gly123Val
- NP_001372820.1:p.Gly123Val
- NP_001372821.1:p.Gly123Val
- NP_001372822.1:p.Gly123Val
- NP_001372823.1:p.Gly123Val
- NP_001372824.1:p.Gly123Val
- NP_001372825.1:p.Gly123Val
- NP_001372826.1:p.Gly123Val
- NP_001372827.1:p.Gly123Val
- NP_001372828.1:p.Gly112Val
- NP_001372829.1:p.Gly112Val
- NP_001372830.1:p.Gly105Val
- NP_001372831.1:p.Gly105Val
- NP_001372832.1:p.Gly112Val
- NP_001372833.1:p.Gly112Val
- NP_001372834.1:p.Gly112Val
- NP_001372835.1:p.Gly105Val
- NP_001372837.1:p.Gly105Val
- NP_001372840.1:p.Gly105Val
- NP_001372844.1:p.Gly93Val
- NP_001372845.1:p.Gly80Val
- NP_001372847.1:p.Gly73Val
- NP_653189.3:p.Gly191Val
- NC_000010.10:g.99509251G>T
- NM_001002261.3:c.572G>T
- NR_169794.1:n.742G>T
- NR_169795.1:n.700G>T
- NR_169796.1:n.767G>T
- NR_169798.1:n.731G>T
- NR_169799.1:n.388G>T
- NR_169801.1:n.767G>T
- NR_169802.1:n.413G>T
- NR_169803.1:n.742G>T
- NR_169804.1:n.760G>T
- NR_169805.1:n.771G>T
- NR_169806.1:n.756G>T
- NR_169808.1:n.799G>T
- NR_169809.1:n.696G>T
- NR_169810.1:n.767G>T
- NR_169811.1:n.731G>T
- Q5T4F4:p.Gly191Val
This HGVS expression did not pass validation- Protein change:
- G105V; GLY191VAL
- Links:
- UniProtKB: Q5T4F4#VAR_027269; OMIM: 610243.0001; dbSNP: rs35077384
- NCBI 1000 Genomes Browser:
- rs35077384
- Molecular consequence:
- NM_001385919.1:c.32-837G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001002261.4:c.572G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001002262.4:c.572G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001174119.2:c.476G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001174120.2:c.314G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001174121.2:c.278G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001174122.2:c.218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385871.1:c.572G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385875.1:c.572G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385876.1:c.611G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385877.1:c.572G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385878.1:c.572G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385879.1:c.572G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385880.1:c.572G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385881.1:c.536G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385882.1:c.572G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385883.1:c.572G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385884.1:c.572G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385885.1:c.476G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385886.1:c.476G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385887.1:c.476G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385888.1:c.476G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385889.1:c.476G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385890.1:c.368G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385891.1:c.368G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385892.1:c.368G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385893.1:c.368G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385894.1:c.368G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385895.1:c.368G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385896.1:c.368G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385897.1:c.368G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385898.1:c.368G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385899.1:c.335G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385900.1:c.335G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385901.1:c.314G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385902.1:c.314G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385903.1:c.335G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385904.1:c.335G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385905.1:c.335G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385906.1:c.314G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385908.1:c.314G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385911.1:c.314G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385915.1:c.278G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385916.1:c.239G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385918.1:c.218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_144588.7:c.572G>T - missense variant - [Sequence Ontology: SO:0001583]
- NR_169794.1:n.742G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169795.1:n.700G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169796.1:n.767G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169798.1:n.731G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169799.1:n.388G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169801.1:n.767G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169802.1:n.413G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169803.1:n.742G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169804.1:n.760G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169805.1:n.771G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169806.1:n.756G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169808.1:n.799G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169809.1:n.696G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169810.1:n.767G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169811.1:n.731G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
| Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
|---|---|---|---|---|---|---|
| SCV001950694 | GeneDx | criteria provided, single submitter (GeneDx Variant Classification Process June 2021) | Benign (Jan 4, 2021) | germline | clinical testing |
Summary from all submissions
| Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
|---|---|---|---|---|---|---|---|---|
| not provided | germline | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From GeneDx, SCV001950694.2
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
This variant is associated with the following publications: (PMID: 18606302, 20981092, 16826525, 27884173)
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
Last Updated: Oct 8, 2024