GRCh37/hg19 7q11.23(chr7:72718278-74142256)x1 AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 4, 2022
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:: RCV002472548.2

Allele description [Variation Report for GRCh37/hg19 7q11.23(chr7:72718278-74142256)x1]

GRCh37/hg19 7q11.23(chr7:72718278-74142256)x1

Genes:

ABHD11-AS1:ABHD11 antisense RNA 1 (tail to tail) [Gene - OMIM - HGNC]
BCL7B:BAF chromatin remodeling complex subunit BCL7B [Gene - OMIM - HGNC]
BUD23:BUD23 rRNA methyltransferase and ribosome maturation factor [Gene - OMIM - HGNC]
CLIP2:CAP-Gly domain containing linker protein 2 [Gene - OMIM - HGNC]
DNAJC30:DnaJ heat shock protein family (Hsp40) member C30 [Gene - OMIM - HGNC]
FKBP6:FKBP prolyl isomerase family member 6 (inactive) [Gene - OMIM - HGNC]
GTF2IRD1:GTF2I repeat domain containing 1 [Gene - OMIM - HGNC]
LIMK1:LIM domain kinase 1 [Gene - OMIM - HGNC]
MLXIPL:MLX interacting protein like [Gene - OMIM - HGNC]
NSUN5:NOP2/Sun RNA methyltransferase 5 [Gene - OMIM - HGNC]
VPS37D:VPS37D subunit of ESCRT-I [Gene - OMIM - HGNC]
ABHD11:abhydrolase domain containing 11 [Gene - HGNC]
BAZ1B:bromodomain adjacent to zinc finger domain 1B [Gene - OMIM - HGNC]
CLDN3:claudin 3 [Gene - OMIM - HGNC]
CLDN4:claudin 4 [Gene - OMIM - HGNC]
ELN:elastin [Gene - OMIM - HGNC]
EIF4H:eukaryotic translation initiation factor 4H [Gene - OMIM - HGNC]
FZD9:frizzled class receptor 9 [Gene - OMIM - HGNC]
GTF2I:general transcription factor IIi [Gene - OMIM - HGNC]
LAT2:linker for activation of T cells family member 2 [Gene - OMIM - HGNC]
METTL27:methyltransferase like 27 [Gene - OMIM - HGNC]
MIR590:microRNA 590 [Gene - OMIM - HGNC]
RFC2:replication factor C subunit 2 [Gene - OMIM - HGNC]
STX1A:syntaxin 1A [Gene - OMIM - HGNC]
TBL2:transducin beta like 2 [Gene - OMIM - HGNC]
TMEM270:transmembrane protein 270 [Gene - OMIM - HGNC]
TRIM50:tripartite motif containing 50 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

7q11.23

Genomic location:

Chr7: 72718278 - 74142256 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 7q11.23(chr7:72718278-74142256)x1

HGVS:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002772416	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (ACMG/ClinGen CNV Guidelines, 2019)	Pathogenic (Aug 4, 2022)	unknown	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

SCV002772416

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(ACMG/ClinGen CNV Guidelines, 2019)

Pathogenic
(Aug 4, 2022)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230. doi: 10.1038/s41436-021-01150-9.

PubMed [citation]

PMID:: 31690835
PMCID:: PMC7313390

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002772416.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This copy number loss involves a number of genes, including ELN and LIMK1, and is expected to cause a phenotype consistent with Williams-Beuren syndrome (OMIM 194050). See GeneReviews for additional information and references: www.ncbi.nlm.nih.gov/books/NBK1249/.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 4, 2024

ClinVar

Relating variation to medicine