GRCh37/hg19 2q31.1-31.2(chr2:176310551-179092634)x1 AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 26, 2017
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:: RCV000849015.2

Allele description [Variation Report for GRCh37/hg19 2q31.1-31.2(chr2:176310551-179092634)x1]

GRCh37/hg19 2q31.1-31.2(chr2:176310551-179092634)x1

Genes:

NFE2L2:NFE2 like bZIP transcription factor 2 [Gene - OMIM - HGNC]
RBM45:RNA binding motif protein 45 [Gene - OMIM - HGNC]
AGPS:alkylglycerone phosphate synthase [Gene - OMIM - HGNC]
EVX2:even-skipped homeobox 2 [Gene - OMIM - HGNC]
HNRNPA3:heterogeneous nuclear ribonucleoprotein A3 [Gene - OMIM - HGNC]
HOXD10:homeobox D10 [Gene - OMIM - HGNC]
HOXD11:homeobox D11 [Gene - OMIM - HGNC]
HOXD12:homeobox D12 [Gene - OMIM - HGNC]
HOXD13:homeobox D13 [Gene - OMIM - HGNC]
HOXD1:homeobox D1 [Gene - OMIM - HGNC]
HOXD3:homeobox D3 [Gene - OMIM - HGNC]
HOXD4:homeobox D4 [Gene - OMIM - HGNC]
HOXD8:homeobox D8 [Gene - OMIM - HGNC]
HOXD9:homeobox D9 [Gene - OMIM - HGNC]
LNPK:lunapark, ER junction formation factor [Gene - OMIM - HGNC]
MTX2:metaxin 2 [Gene - OMIM - HGNC]
MIR10B:microRNA 10b [Gene - OMIM - HGNC]
OSBPL6:oxysterol binding protein like 6 [Gene - OMIM - HGNC]
PDE11A:phosphodiesterase 11A [Gene - OMIM - HGNC]
TTC30A:tetratricopeptide repeat domain 30A [Gene - HGNC]
TTC30B:tetratricopeptide repeat domain 30B [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

2q31.1-31.2

Genomic location:

Chr2: 176310551 - 179092634 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 2q31.1-31.2(chr2:176310551-179092634)x1

HGVS:

NC_000002.11:g.(?_176310551)_(179092634_?)del

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000991157	Bionano Laboratories	no assertion criteria provided	Pathogenic (Oct 26, 2017)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000991157

Bionano Laboratories

no assertion criteria provided

Pathogenic
(Oct 26, 2017)

unknown

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Bionano Laboratories, SCV000991157.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	unknown	unknown	not provided	Buccal	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 11, 2022

ClinVar

Relating variation to medicine