VCV000267195.2 - ClinVar

NC_000011.10:g.30896521_31676711del

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

no assertion criteria provided

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NC_000011.10:g.30896521_31676711del

Variation ID: 267195 Accession: VCV000267195.2

Type and length

Deletion, 780,191 bp

Location

Cytogenetic: 11p14.1-13 11: 30896521-31676711 (GRCh38) [ NCBI UCSC ] 11: 30918066-31698257 (GRCh37) [ NCBI UCSC ] 11: 30874642-31654833 (NCBI36) [ 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	Oct 22, 2016	Oct 7, 2023

HGVS

Nucleotide	Protein	Molecular consequence
NC_000011.10:g.30896521_31676711del
NC_000011.9:g.30918066_31698257del
NC_000011.8:g.30874642_31654833del780192

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.

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

dbVar: essv25893588 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.
DCDC1		-	-	GRCh38 GRCh37	70	137
DNAJC24		-	-	GRCh38 GRCh37	5	63
ELP4		-	-	GRCh38 GRCh37	62	288
IMMP1L		-	-	GRCh38 GRCh37	11	73
LOC105980005	-	-	-	GRCh38	-	13
LOC126861175	-	-	-	GRCh38	-	27
LOC129390272	-	-	-	GRCh38	-	14
LOC129390273	-	-	-	GRCh38	-	13
LOC129390274	-	-	-	GRCh38	-	13
LOC130005469	-	-	-	GRCh38	-	6

There are 3 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).

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.
Congenital aniridia	Pathogenic (1)	no assertion criteria provided	-	RCV000257640.1

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 (-)	no assertion criteria provided Method: research	Congenital aniridia Affected status: yes Allele origin: unknown	EVA, EMBL-EBI Additional submitter: MRC Institute of Genetics and Molecular Medicine, University of Edinburgh Study: Ansari2015 Accession: SCV000267944.2 First in ClinVar: Oct 22, 2016 Last updated: Oct 07, 2023	Method: Each 5q22-23 deletion was ascertained via routine clinical genetics investigations within a regional genetics service laboratory using array-based comparative genomic hybridisation (aCGH) with or without conventional cytogenetic analysis and fluorescent in situ hybridisation (FISH) to metaphase chromosomes. The FISH and aCGH analyses were performed in different clinical and research laboratories. The overlapping phenotype was noted following the submission of deletions from different centres to the DECIPHER database (http://decipher.sanger.ac.uk). A panel of 25 PRS cases with no deletions detected on aCGH were screened for intragenic mutations in FBN2 and PHAX. This study was performed under ethical approval provided by the UK Multiregional Ethics Committee (Reference: 06/MRE00/77). (PMID:25195018)

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for germline classification of this variant

There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for this variant ...

Record last updated Sep 01, 2024

ClinVar Genomic variation as it relates to human health

NC_000011.10:g.30896521_31676711del

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...