VCV000626310.2 - ClinVar

NC_000004.12:g.8398067_17505522inv

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(1)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Pathogenic

criteria provided, single submitter

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NC_000004.12:g.8398067_17505522inv

Variation ID: 626310 Accession: VCV000626310.2

Type and length

Inversion, 9,107,456 bp

Location

Cytogenetic: 4p16.1-15.32 4: 8398067-17505522 (GRCh38) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	May 2, 2019	May 2, 2019	Apr 20, 2019

HGVS

Nucleotide	Protein	Molecular consequence
NC_000004.12:g.8398067_17505522inv

Protein change

Other names

Canonical SPDI

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

No function

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
CLNK		No evidence available	No evidence available	GRCh38 GRCh37	41	117
DRD5		No evidence available	No evidence available	GRCh38 GRCh37	2	138
ACOX3		-	-	GRCh38 GRCh37	100	183
BOD1L1		-	-	GRCh38 GRCh37	216	281
BST1		-	-	GRCh38 GRCh37	30	81
C1QTNF7	-	-	-	GRCh38 GRCh37	19	72
C1QTNF7-AS1	-	-	-	GRCh38 GRCh38	-	41
CC2D2A		-	-	GRCh38 GRCh37	2042	2096
CD38		-	-	GRCh38 GRCh37	18	71
CPEB2		-	-	GRCh38 GRCh38 GRCh37	33	145

There are 185 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Dihydropteridine reductase deficiency	Pathogenic (1)	criteria provided, single submitter	Apr 20, 2019	RCV000768549.4

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Pathogenic (Apr 20, 2019)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: research	Dihydropteridine reductase deficiency (Autosomal recessive inheritance) Affected status: yes Allele origin: germline	Genetics and Personalized Medicine Clinic, Tartu University Hospital Accession: SCV000898485.1 First in ClinVar: May 02, 2019 Last updated: May 02, 2019	Sex: female Ethnicity/Population group: Estonian Geographic origin: Estonia

Germline Functional Evidence

Functional Help The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence	Method Help A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter.	Result Help A brief description of the result of this method for this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
No function	Method not provided	Result not provided	Genetics and Personalized Medicine Clinic, Tartu University Hospital Accession: SCV000898485.1

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency.	Lilleväli H	Molecular genetics & genomic medicine	2020	PMID: 32022462

Text-mined citations for this variant ...

Record last updated Oct 15, 2023

ClinVar Genomic variation as it relates to human health

NC_000004.12:g.8398067_17505522inv

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...