GRCh37/hg19 10q24.31-24.32(chr10:102981549-103472860)x3 AND not specified

Germline classification:: Likely pathogenic (1 submission)
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:: RCV003986856.1

Allele description [Variation Report for GRCh37/hg19 10q24.31-24.32(chr10:102981549-103472860)x3]

GRCh37/hg19 10q24.31-24.32(chr10:102981549-103472860)x3

Genes:

POLL:DNA polymerase lambda [Gene - OMIM - HGNC]
FBXW4:F-box and WD repeat domain containing 4 [Gene - OMIM - HGNC]
BTRC:beta-transducin repeat containing E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
DPCD:deleted in primary ciliary dyskinesia homolog (mouse) [Gene - OMIM - HGNC]
LBX1:ladybird homeobox 1 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

10q24.31-24.32

Genomic location:

Chr10: 102981549 - 103472860 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 10q24.31-24.32(chr10:102981549-103472860)x3

HGVS:

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
SCV004802985	ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories	criteria provided, single submitter (Constitutional Copy Number Variant Assertion Criteria)	Likely pathogenic	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004802985

ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories

criteria provided, single submitter

(Constitutional Copy Number Variant Assertion Criteria)

Likely pathogenic

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, SCV004802985.1

#	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: Mar 30, 2024

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