NM_001284236.3(ZFYVE16):c.3442G>T (p.Asp1148Tyr) AND Cerebral arteriovenous malformation

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 14, 2018
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:: RCV000656334.1

Allele description [Variation Report for NM_001284236.3(ZFYVE16):c.3442G>T (p.Asp1148Tyr)]

NM_001284236.3(ZFYVE16):c.3442G>T (p.Asp1148Tyr)

Gene:

ZFYVE16:zinc finger FYVE-type containing 16 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q14.1

Genomic location:

Preferred name:

NM_001284236.3(ZFYVE16):c.3442G>T (p.Asp1148Tyr)

HGVS:

NC_000005.10:g.80451544G>T
NM_001105251.4:c.3442G>T
NM_001284236.3:c.3442G>TMANE SELECT
NM_001349434.2:c.3442G>T
NM_014733.6:c.3442G>T
NP_001098721.2:p.Asp1148Tyr
NP_001271165.2:p.Asp1148Tyr
NP_001336363.2:p.Asp1148Tyr
NP_055548.4:p.Asp1148Tyr
NC_000005.9:g.79747363G>T
NM_014733.3:c.3442G>T
NR_146172.2:n.3902G>T
NR_146173.2:n.3676G>T
NR_146174.2:n.3847G>T

Protein change:

D1148Y

Links:

dbSNP: rs1554047435

NCBI 1000 Genomes Browser:

rs1554047435

Molecular consequence:

NM_001105251.4:c.3442G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001284236.3:c.3442G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001349434.2:c.3442G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_014733.6:c.3442G>T - missense variant - [Sequence Ontology: SO:0001583]
NR_146172.2:n.3902G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146173.2:n.3676G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146174.2:n.3847G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Cerebral arteriovenous malformation (BAVM)
Synonyms:: CEREBRAL ARTERIOVENOUS MALFORMATIONS; Arteriovenous malformations of the brain
Identifiers:: MONDO: MONDO:0007154; MedGen: C0917804; Orphanet: 46724; OMIM: 108010; Human Phenotype Ontology: HP:0002408

Recent activity

Clear Turn Off Turn On

Exercise training effect on metabolic syndrome patients: vastus lateralis muscle
Exercise training effect on metabolic syndrome patients: vastus lateralis muscle
Accession: GDS4909

GEO DataSets
Related DataSets for GEO Profiles (Select 113702771) (1)
GEO DataSets
PMC Links for Nucleotide (Select 83540131) (1)
PMC

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
SCV000747779	Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital - DISCO	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 14, 2018)	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

SCV000747779

Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital - DISCO

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 14, 2018)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

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 Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital - DISCO, SCV000747779.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine