GRCh37/hg19 22q13.33(chr22:51123491-51219009) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 15, 2021
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:: RCV001352662.1

Allele description [Variation Report for GRCh37/hg19 22q13.33(chr22:51123491-51219009)]

GRCh37/hg19 22q13.33(chr22:51123491-51219009)

Genes:: RABL2B:RAB, member of RAS oncogene family like 2B [Gene - OMIM - HGNC]
SHANK3:SH3 and multiple ankyrin repeat domains 3 [Gene - OMIM - HGNC]
ACR:acrosin [Gene - OMIM - HGNC]
Variant type:: copy number loss
Cytogenetic location:: 22q13.33
Genomic location:: Chr22: 51123491 - 51219009 (on Assembly GRCh37)
Preferred name:: GRCh37/hg19 22q13.33(chr22:51123491-51219009)
HGVS:: NC_000022.10:g.(?_51123491)_(51219009_?)del
This HGVS expression did not pass validation

Condition(s)

Name:: Autism (AUTS)
Synonyms:: Autistic disorder; Autistic disorder of childhood onset
Identifiers:: MONDO: MONDO:0005260; MeSH: D001321; MedGen: C0004352; OMIM: 209850; Human Phenotype Ontology: HP:0000717

Name:: Global developmental delay (DD)
Identifiers:: MedGen: C0557874; Human Phenotype Ontology: HP:0001263

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001547230	Medical Genetics Laboratory, CHRU Nancy	criteria provided, single submitter (ACMG/ClinGen CNV Guidelines, 2019)	Pathogenic (Mar 15, 2021)	de novo	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

SCV001547230

Medical Genetics Laboratory, CHRU Nancy

criteria provided, single submitter

(ACMG/ClinGen CNV Guidelines, 2019)

Pathogenic
(Mar 15, 2021)

de novo

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	de novo	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. doi: 10.1038/s41436-021-01150-9.

PubMed [citation]

PMID:: 31690835
PMCID:: PMC7313390

Details of each submission

From Medical Genetics Laboratory, CHRU Nancy, SCV001547230.1

#	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	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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