GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092) AND not specified

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 2022
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:: RCV002053064.3

Allele description [Variation Report for GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092)]

GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092)

Genes:

ATXN8OS:ATXN8 opposite strand lncRNA [Gene - OMIM - HGNC]
BORA:BORA aurora kinase A activator [Gene - OMIM - HGNC]
CLN5:CLN5 intracellular trafficking protein [Gene - OMIM - HGNC]
COMMD6:COMM domain containing 6 [Gene - OMIM - HGNC]
DIS3:DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease [Gene - OMIM - HGNC]
FBXL3:F-box and leucine rich repeat protein 3 [Gene - OMIM - HGNC]
KLF12:KLF transcription factor 12 [Gene - OMIM - HGNC]
KLF5:KLF transcription factor 5 [Gene - OMIM - HGNC]
LMO7:LIM domain 7 [Gene - OMIM - HGNC]
LMO7DN:LMO7 downstream neighbor [Gene - HGNC]
MYCBP2:MYC binding protein 2 [Gene - OMIM - HGNC]
NDFIP2:Nedd4 family interacting protein 2 [Gene - OMIM - HGNC]
OBI1:ORC ubiquitin ligase 1 [Gene - OMIM - HGNC]
POU4F1:POU class 4 homeobox 1 [Gene - OMIM - HGNC]
RBM26:RNA binding motif protein 26 [Gene - OMIM - HGNC]
SLAIN1:SLAIN motif family member 1 [Gene - OMIM - HGNC]
TBC1D4:TBC1 domain family member 4 [Gene - OMIM - HGNC]
ACOD1:aconitate decarboxylase 1 [Gene - OMIM - HGNC]
DACH1:dachshund family transcription factor 1 [Gene - OMIM - HGNC]
EDNRB:endothelin receptor type B [Gene - OMIM - HGNC]
KLHL1:kelch like family member 1 [Gene - OMIM - HGNC]
LINC00402:long intergenic non-protein coding RNA 402 [Gene - HGNC]
MZT1:mitotic spindle organizing protein 1 [Gene - OMIM - HGNC]
KCTD12:potassium channel tetramerization domain containing 12 [Gene - OMIM - HGNC]
PIBF1:progesterone immunomodulatory binding factor 1 [Gene - OMIM - HGNC]
PCDH20:protocadherin 20 [Gene - OMIM - HGNC]
PCDH9:protocadherin 9 [Gene - OMIM - HGNC]
SCEL:sciellin [Gene - OMIM - HGNC]
SPRY2:sprouty RTK signaling antagonist 2 [Gene - OMIM - HGNC]
UCHL3:ubiquitin C-terminal hydrolase L3 [Gene - OMIM - HGNC]
LOC100288208:uncharacterized LOC100288208 [Gene]

Variant type:

copy number loss

Cytogenetic location:

13q21.2-31.1

Genomic location:

Chr13: 61686543 - 83302092 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092)

HGVS:

NC_000013.10:g.(?_61686543)_(83302092_?)del

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002319498	ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories	criteria provided, single submitter (ARUP Cytogenomic Constitutional CNV Assertion Criteria)	Pathogenic (Mar 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002319498

ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories

criteria provided, single submitter

(ARUP Cytogenomic Constitutional CNV Assertion Criteria)

Pathogenic
(Mar 1, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV002319498.1

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

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

Last Updated: Sep 1, 2024

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