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GRCh37/hg19 15q13.2-13.3(chr15:31073735-32914240)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 2021
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:
RCV000683673.4

Allele description [Variation Report for GRCh37/hg19 15q13.2-13.3(chr15:31073735-32914240)x1]

GRCh37/hg19 15q13.2-13.3(chr15:31073735-32914240)x1

Genes:
  • FAN1:FANCD2 and FANCI associated nuclease 1 [Gene - OMIM - HGNC]
  • KLF13:KLF transcription factor 13 [Gene - OMIM - HGNC]
  • OTUD7A:OTU deubiquitinase 7A [Gene - OMIM - HGNC]
  • ARHGAP11A:Rho GTPase activating protein 11A [Gene - OMIM - HGNC]
  • CHRNA7:cholinergic receptor nicotinic alpha 7 subunit [Gene - OMIM - HGNC]
  • GOLGA8N:golgin A8 family member N [Gene - HGNC]
  • GOLGA8O:golgin A8 family member O [Gene - HGNC]
  • MIR211:microRNA 211 [Gene - OMIM - HGNC]
  • MTMR10:myotubularin related protein 10 [Gene - HGNC]
  • TRPM1:transient receptor potential cation channel subfamily M member 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
15q13.2-13.3
Genomic location:
Chr15: 31073735 - 32914240 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 15q13.2-13.3(chr15:31073735-32914240)x1
HGVS:
NC_000015.9:g.(?_31073735)_(32914240_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000811182Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Pathogenic
(Feb 1, 2021) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000811182.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This is a recurrent deletion interval (15q13.3 recurrent region (BP4-BP5) includes CHRNA7) associated with chromosome 15q13.3 deletion syndrome (OMIM 612001). Individuals with the 15q13.3 microdeletion are at increased risk for a highly variable phenotype, including mild to moderate intellectual disability or learning difficulties (or may have no cognitive deficits), seizures, autism spectrum disorders, schizophrenia, and various dysmorphic features. However some individuals with the deletion have no obvious clinical findings, implying incomplete penetrance and variable expressivity (GeneReviews [Internet]. https://www.ncbi.nlm.nih.gov/books/NBK50780/; ClinGen Dosage Sensitivity Curation Page: 15q13.3 recurrent region (BP4-BP5)).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 26, 2023