GRCh37/hg19 6q27(chr6:167317903-170919482) 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:: RCV002053659.3

Allele description [Variation Report for GRCh37/hg19 6q27(chr6:167317903-170919482)]

GRCh37/hg19 6q27(chr6:167317903-170919482)

Genes:

CCR6:C-C motif chemokine receptor 6 [Gene - OMIM - HGNC]
ERMARD:ER membrane associated RNA degradation [Gene - OMIM - HGNC]
FRMD1:FERM domain containing 1 [Gene - HGNC]
GPR31:G protein-coupled receptor 31 [Gene - OMIM - HGNC]
PHF10:PHD finger protein 10 [Gene - OMIM - HGNC]
SMOC2:SPARC related modular calcium binding 2 [Gene - OMIM - HGNC]
TBP:TATA-box binding protein [Gene - OMIM - HGNC]
WDR27:WD repeat domain 27 [Gene - HGNC]
AFDN:afadin, adherens junction formation factor [Gene - OMIM - HGNC]
CEP43:centrosomal protein 43 [Gene - OMIM - HGNC]
C6orf120:chromosome 6 open reading frame 120 [Gene - OMIM - HGNC]
DLL1:delta like canonical Notch ligand 1 [Gene - OMIM - HGNC]
DACT2:dishevelled binding antagonist of beta catenin 2 [Gene - OMIM - HGNC]
DYNLT2:dynein light chain Tctex-type 2 [Gene - OMIM - HGNC]
FAM120B:family with sequence similarity 120B [Gene - OMIM - HGNC]
KIF25:kinesin family member 25 [Gene - OMIM - HGNC]
LINC02487:long intergenic non-protein coding RNA 2487 [Gene - HGNC]
PDCD2:programmed cell death 2 [Gene - OMIM - HGNC]
PSMB1:proteasome 20S subunit beta 1 [Gene - OMIM - HGNC]
RNASET2:ribonuclease T2 [Gene - OMIM - HGNC]
THBS2:thrombospondin 2 [Gene - OMIM - HGNC]
TTLL2:tubulin tyrosine ligase like 2 [Gene - HGNC]
UNC93A:unc-93 homolog A [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

6q27

Genomic location:

Chr6: 167317903 - 170919482 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 6q27(chr6:167317903-170919482)

HGVS:

NC_000006.11:g.(?_167317903)_(170919482_?)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
SCV002320455	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

SCV002320455

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, SCV002320455.1

#	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 26, 2023

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