NM_024071.4(ZFYVE21):c.604_607dup (p.Val203fs) AND Premature coronary artery atherosclerosis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 22, 2023
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:: RCV003444014.1

Allele description [Variation Report for NM_024071.4(ZFYVE21):c.604_607dup (p.Val203fs)]

NM_024071.4(ZFYVE21):c.604_607dup (p.Val203fs)

Gene:

ZFYVE21:zinc finger FYVE-type containing 21 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

14q32.33

Genomic location:

Preferred name:

NM_024071.4(ZFYVE21):c.604_607dup (p.Val203fs)

HGVS:

NC_000014.9:g.103732697_103732700dup
NG_046915.1:g.121269_121272dup
NM_001198953.2:c.658_661dup
NM_024071.4:c.604_607dupMANE SELECT
NP_001185882.1:p.Val221fs
NP_076976.1:p.Val203fs
NC_000014.8:g.104199034_104199037dup

Protein change:

V203fs

Molecular consequence:

NM_001198953.2:c.658_661dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_024071.4:c.604_607dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Premature coronary artery atherosclerosis
Identifiers:: MedGen: C1867743; Human Phenotype Ontology: HP:0005181

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004171053	Genetics Research Center, University of Social Welfare and Rehabilitation Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 22, 2023)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004171053

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 22, 2023)

germline

research

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	4	1	not provided	not provided	yes	research

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 Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, SCV004171053.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	yes	research	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		4	not provided	1	not provided

Last Updated: Dec 2, 2023

ClinVar

Relating variation to medicine