GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2017
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:: RCV000626544.2

Allele description [Variation Report for GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918)]

GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918)

Genes:

AGPAT5:1-acylglycerol-3-phosphate O-acyltransferase 5 [Gene - OMIM - HGNC]
CLN8:CLN8 transmembrane ER and ERGIC protein [Gene - OMIM - HGNC]
CSMD1:CUB and Sushi multiple domains 1 [Gene - OMIM - HGNC]
DLGAP2:DLG associated protein 2 [Gene - OMIM - HGNC]
FBXO25:F-box protein 25 [Gene - OMIM - HGNC]
ARHGEF10:Rho guanine nucleotide exchange factor 10 [Gene - OMIM - HGNC]
XKR5:XK related 5 [Gene - HGNC]
ANGPT2:angiopoietin 2 [Gene - OMIM - HGNC]
DEFA4:defensin alpha 4 [Gene - OMIM - HGNC]
DEFA6:defensin alpha 6 [Gene - OMIM - HGNC]
DEFB1:defensin beta 1 [Gene - OMIM - HGNC]
ERICH1:glutamate rich 1 [Gene - HGNC]
KBTBD11:kelch repeat and BTB domain containing 11 [Gene - OMIM - HGNC]
MCPH1:microcephalin 1 [Gene - OMIM - HGNC]
MYOM2:myomesin 2 [Gene - OMIM - HGNC]
TDRP:testis development related protein [Gene - OMIM - HGNC]
ZNF596:zinc finger protein 596 [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

8p23.3-23.1

Genomic location:

Chr8: 194617 - 6816918 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918)

HGVS:

NC_000008.10:g.(?_194617)_(6816918_?)del

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:: Micrognathia
Identifiers:: MedGen: C0025990; Human Phenotype Ontology: HP:0000347

Name:: Low-set ears
Identifiers:: MedGen: C0239234; Human Phenotype Ontology: HP:0000369

Name:: Delayed speech and language development
Identifiers:: MedGen: C0454644; Human Phenotype Ontology: HP:0000750

Name:: Narrow forehead
Identifiers:: MedGen: C1839758; Human Phenotype Ontology: HP:0000341

Name:: Wide nasal bridge
Identifiers:: MedGen: C1849367; Human Phenotype Ontology: HP:0000431

Name:: Intellectual disability, mild
Identifiers:: MedGen: C0026106; Human Phenotype Ontology: HP:0001256

Name:: Delayed fine motor development
Identifiers:: MedGen: C4023681; Human Phenotype Ontology: HP:0010862

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
SCV000747245	Centre for Mendelian Genomics, University Medical Centre Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2017)	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

SCV000747245

Centre for Mendelian Genomics, University Medical Centre Ljubljana

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 1, 2017)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000747245.1

#	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	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 9, 2024

ClinVar

Relating variation to medicine