VCV000242602.2 - ClinVar

NC_000018.9:g.76841645_78077248del1235604

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

This variant is part of a Genotype

Multiple alleles

Identifiers

NC_000018.9:g.76841645_78077248del1235604

Variation ID: 242602 Accession: VCV000242602.2

Type and length

Deletion, 1,235,604 bp

Location

Cytogenetic: 18q23 18: 76841645-78077248 (GRCh37) [ 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	Aug 29, 2016	Aug 29, 2016	Mar 28, 2016

HGVS

Nucleotide	Protein	Molecular consequence
NC_000018.9:g.76841645_78077248del1235604

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

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.
ADNP2		-	-	GRCh38 GRCh37	83	259
ATP9B		-	-	GRCh38 GRCh37	99	280
CTDP1		-	-	GRCh38 GRCh38 GRCh37	547	732
HSBP1L1	-	-	-	GRCh38 GRCh37	1	183
KCNG2		-	-	GRCh38 GRCh37	37	229
NFATC1		-	-	GRCh38 GRCh37	219	406
PARD6G		-	-	GRCh38 GRCh37	4	199
RBFA		-	-	GRCh38 GRCh37	27	207
SLC66A2	-	-	-	GRCh38 GRCh37	27	212
TXNL4A		-	-	GRCh38 GRCh37	26	216

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.
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	Pathogenic (1)	no assertion criteria provided	Mar 28, 2016	RCV000239653.10

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 (Mar 28, 2016)	no assertion criteria provided Method: literature only	Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome Affected status: yes Allele origin: germline	GeneReviews Accession: SCV000297985.1 First in ClinVar: Aug 29, 2016 Last updated: Aug 29, 2016 Comment: Heterozygous whole-gene deletion	Publications: PubMed (1) PubMed: 25434003 Other databases http://www.ncbi.nlm.nih.gov/book… http://www.ncbi.nlm.nih.gov/books/NBK373577/ Observation 1: Observation 2:

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

Title	Author	Journal	Year	Link
TXNL4A-Related Craniofacial Disorders.	Adam MP	-	2022	PMID: 27413799
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.	Wieczorek D	American journal of human genetics	2014	PMID: 25434003

Text-mined citations for this variant ...

Record last updated Oct 27, 2024

ClinVar Genomic variation as it relates to human health

NC_000018.9:g.76841645_78077248del1235604

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...