GRCh38/hg38 3p13(chr3:71518345-71562911) AND Autism spectrum disorder

Germline classification:: Uncertain significance (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003883416.1

Allele description [Variation Report for GRCh38/hg38 3p13(chr3:71518345-71562911)]

GRCh38/hg38 3p13(chr3:71518345-71562911)

Genes:: LOC110121007:VISTA enhancer hs1149 [Gene]
MIR1284:microRNA 1284 [Gene - HGNC]
FOXP1:forkhead box P1 [Gene - OMIM - HGNC]
Variant type:: copy number loss
Cytogenetic location:: 3p13
Genomic location:: Chr3: 71518345 - 71562911 (on Assembly GRCh38)
Preferred name:: GRCh38/hg38 3p13(chr3:71518345-71562911)

Condition(s)

Name:: Autism spectrum disorder
Synonyms:: Autism spectrum disorders
Identifiers:: MONDO: MONDO:0005258; MeSH: D000067877; MedGen: C1510586

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004697843	Genetics Department, Polish Mother's Memorial Hospital Research Institute	no assertion criteria provided	Uncertain significance	maternal	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004697843

Genetics Department, Polish Mother's Memorial Hospital Research Institute

no assertion criteria provided

Uncertain significance

maternal

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	1	not provided	not provided	not provided	not provided	research

Details of each submission

From Genetics Department, Polish Mother's Memorial Hospital Research Institute, SCV004697843.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	not provided

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

Last Updated: Mar 10, 2024

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