GRCh37/hg19 3q21.2-21.3(chr3:124369671-126423192) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 1, 2018
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:: RCV000767706.1

Allele description [Variation Report for GRCh37/hg19 3q21.2-21.3(chr3:124369671-126423192)]

GRCh37/hg19 3q21.2-21.3(chr3:124369671-126423192)

Genes:

KLF15:Kruppel like factor 15 [Gene - OMIM - HGNC]
ZXDC:ZXD family zinc finger C [Gene - OMIM - HGNC]
ALDH1L1:aldehyde dehydrogenase 1 family member L1 [Gene - OMIM - HGNC]
CHST13:carbohydrate sulfotransferase 13 [Gene - OMIM - HGNC]
C3orf22:chromosome 3 open reading frame 22 [Gene - HGNC]
CFAP100:cilia and flagella associated protein 100 [Gene - HGNC]
CHCHD6:coiled-coil-helix-coiled-coil-helix domain containing 6 [Gene - OMIM - HGNC]
HEG1:heart development protein with EGF like domains 1 [Gene - OMIM - HGNC]
ITGB5:integrin subunit beta 5 [Gene - OMIM - HGNC]
KALRN:kalirin RhoGEF kinase [Gene - OMIM - HGNC]
MUC13:mucin 13, cell surface associated [Gene - OMIM - HGNC]
OSBPL11:oxysterol binding protein like 11 [Gene - OMIM - HGNC]
ROPN1B:rhophilin associated tail protein 1B [Gene - HGNC]
SLC12A8:solute carrier family 12 member 8 [Gene - OMIM - HGNC]
SLC41A3:solute carrier family 41 member 3 [Gene - OMIM - HGNC]
SNX4:sorting nexin 4 [Gene - OMIM - HGNC]
TXNRD3NB:thioredoxin reductase 3 neighbor [Gene - HGNC]
TXNRD3:thioredoxin reductase 3 [Gene - OMIM - HGNC]
UMPS:uridine monophosphate synthetase [Gene - OMIM - HGNC]
UROC1:urocanate hydratase 1 [Gene - OMIM - HGNC]
ZNF148:zinc finger protein 148 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

3q21.2-21.3

Genomic location:

Chr3: 124369671 - 126423192 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 3q21.2-21.3(chr3:124369671-126423192)

HGVS:

NC_000003.11:g.(?_124369671)_(126423192_?)del

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000898328	Baylor Genetics	criteria provided, single submitter (ACMG CNV Guidelines, 2011)	Likely pathogenic (Nov 1, 2018)	germline	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

SCV000898328

Baylor Genetics

criteria provided, single submitter

(ACMG CNV Guidelines, 2011)

Likely pathogenic
(Nov 1, 2018)

germline

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	germline	unknown	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee..

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

PubMed [citation]

PMID:: 21681106

Details of each submission

From Baylor Genetics, SCV000898328.1

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

Description

This CNV was detected in a symptomatic patient referred for CMA testing, but consent was not obtained to report individual clinical features

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

Last Updated: Apr 23, 2022

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