GRCh37/hg19 15q13.2-13.3(chr15:31108661-32446830)x1 AND Chromosome 15q13.3 microdeletion syndrome

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000509445.1

Allele description [Variation Report for GRCh37/hg19 15q13.2-13.3(chr15:31108661-32446830)x1]

GRCh37/hg19 15q13.2-13.3(chr15:31108661-32446830)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]
CHRNA7:cholinergic receptor nicotinic alpha 7 subunit [Gene - OMIM - 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: 31108661 - 32446830 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 15q13.2-13.3(chr15:31108661-32446830)x1

HGVS:

NC_000015.9:g.(?_31108661)_(32446830_?)del

Condition(s)

Name:: Chromosome 15q13.3 microdeletion syndrome
Synonyms:: CHROMOSOME 15q13.3 DELETION SYNDROME; 15q13.3 microdeletion syndrome; 15q13.3 Microdeletion
Identifiers:: MONDO: MONDO:0012774; MedGen: C2677613; Orphanet: 199318; OMIM: 612001

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000607120	GenomeConnect, ClinGen	no classification provided	not provided	maternal	phenotyping only

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000607120

GenomeConnect, ClinGen

no classification provided

not provided

maternal

phenotyping only

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	unknown	not provided	not provided	not provided	not provided	not provided	phenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000607120.1

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

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Mar 26, 2023

ClinVar

Relating variation to medicine