GRCh37/hg19 22q11.21(chr22:21075575-21454721) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 1, 2020
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:: RCV001291976.1

Allele description [Variation Report for GRCh37/hg19 22q11.21(chr22:21075575-21454721)]

GRCh37/hg19 22q11.21(chr22:21075575-21454721)

Genes:

CRKL:CRK like proto-oncogene, adaptor protein [Gene - OMIM - HGNC]
THAP7:THAP domain containing 7 [Gene - OMIM - HGNC]
AIFM3:apoptosis inducing factor mitochondria associated 3 [Gene - OMIM - HGNC]
LZTR1:leucine zipper like transcription regulator 1 [Gene - OMIM - HGNC]
PI4KA:phosphatidylinositol 4-kinase alpha [Gene - OMIM - HGNC]
P2RX6:purinergic receptor P2X 6 [Gene - OMIM - HGNC]
SERPIND1:serpin family D member 1 [Gene - OMIM - HGNC]
SLC7A4:solute carrier family 7 member 4 [Gene - OMIM - HGNC]
SNAP29:synaptosome associated protein 29 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

22q11.21

Genomic location:

Chr22: 21075575 - 21454721 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 22q11.21(chr22:21075575-21454721)

HGVS:

NC_000022.10:g.(?_21075575)_(21454721_?)del

Condition(s)

Name:: Hydronephrosis
Identifiers:: MONDO: MONDO:0005510; MedGen: C0020295; Human Phenotype Ontology: HP:0000126

Name:: Short nose
Synonyms:: Nasal hypoplasia
Identifiers:: MedGen: C1854114; Human Phenotype Ontology: HP:0003196

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001480543	Medical Genetics Laboratory, CHRU Nancy	criteria provided, single submitter (ACMG/ClinGen CNV Guidelines, 2019)	Likely pathogenic (Oct 1, 2020)	paternal	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

SCV001480543

Medical Genetics Laboratory, CHRU Nancy

criteria provided, single submitter

(ACMG/ClinGen CNV Guidelines, 2019)

Likely pathogenic
(Oct 1, 2020)

paternal

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	paternal	yes	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.

PubMed [citation]

PMID:: 31690835
PMCID:: PMC7313390

Details of each submission

From Medical Genetics Laboratory, CHRU Nancy, SCV001480543.1

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

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

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine