NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val) AND Spastic paraplegia

Germline classification:: Benign (1 submission)
Last evaluated:: Jan 18, 2024
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:: RCV000471962.10

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]

Condition(s)

Name:: Spastic paraplegia
Identifiers:: MedGen: C0037772; Human Phenotype Ontology: HP:0001258

Recent activity

Clear Turn Off Turn On

phosphatase inhibitor-2 [Rattus sp.]
phosphatase inhibitor-2 [Rattus sp.]
gi|1050975|gb|AAB35244.1||bbm|37512 |169813

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000556810	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 18, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000556810

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 18, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000556810.7

#	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

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine