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NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val) AND not specified

Germline classification:
Benign (3 submissions)
Last evaluated:
Jun 25, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000407569.6

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
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]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000332544Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Benign
(Jun 25, 2015) 		germlineclinical testing

Citation Link,

SCV001930785Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

SCV001963288Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus
no assertion criteria provided
Benigngermlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000332544.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001930785.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001963288.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024