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GRCh37/hg19 2q22.3-24.1(chr2:147173792-158346266)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 12, 2019
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:
RCV001005326.1

Allele description [Variation Report for GRCh37/hg19 2q22.3-24.1(chr2:147173792-158346266)x1]

GRCh37/hg19 2q22.3-24.1(chr2:147173792-158346266)x1

Genes:
  • ARL5A:ADP ribosylation factor like GTPase 5A [Gene - OMIM - HGNC]
  • ARL6IP6:ADP ribosylation factor like GTPase 6 interacting protein 6 [Gene - OMIM - HGNC]
  • LYPD6:LY6/PLAUR domain containing 6 [Gene - OMIM - HGNC]
  • LYPD6B:LY6/PLAUR domain containing 6B [Gene - HGNC]
  • NMI:N-myc and STAT interactor [Gene - OMIM - HGNC]
  • RBM43:RNA binding motif protein 43 [Gene - HGNC]
  • RND3:Rho family GTPase 3 [Gene - OMIM - HGNC]
  • TNFAIP6:TNF alpha induced protein 6 [Gene - OMIM - HGNC]
  • ACVR2A:activin A receptor type 2A [Gene - OMIM - HGNC]
  • CACNB4:calcium voltage-gated channel auxiliary subunit beta 4 [Gene - OMIM - HGNC]
  • CYTIP:cytohesin 1 interacting protein [Gene - OMIM - HGNC]
  • EPC2:enhancer of polycomb homolog 2 [Gene - OMIM - HGNC]
  • ERMN:ermin [Gene - OMIM - HGNC]
  • FMNL2:formin like 2 [Gene - OMIM - HGNC]
  • GPD2:glycerol-3-phosphate dehydrogenase 2 [Gene - OMIM - HGNC]
  • MMADHC:metabolism of cobalamin associated D [Gene - OMIM - HGNC]
  • MBD5:methyl-CpG binding domain protein 5 [Gene - OMIM - HGNC]
  • NEB:nebulin [Gene - OMIM - HGNC]
  • NR4A2:nuclear receptor subfamily 4 group A member 2 [Gene - OMIM - HGNC]
  • ORC4:origin recognition complex subunit 4 [Gene - OMIM - HGNC]
  • GALNT13:polypeptide N-acetylgalactosaminyltransferase 13 [Gene - OMIM - HGNC]
  • GALNT5:polypeptide N-acetylgalactosaminyltransferase 5 [Gene - OMIM - HGNC]
  • KCNJ3:potassium inwardly rectifying channel subfamily J member 3 [Gene - OMIM - HGNC]
  • PRPF40A:pre-mRNA processing factor 40 homolog A [Gene - OMIM - HGNC]
  • RIF1:replication timing regulatory factor 1 [Gene - OMIM - HGNC]
  • RPRM:reprimo, TP53 dependent G2 arrest mediator homolog [Gene - OMIM - HGNC]
  • STAM2:signal transducing adaptor molecule 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
2q22.3-24.1
Genomic location:
Chr2: 147173792 - 158346266 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 2q22.3-24.1(chr2:147173792-158346266)x1
HGVS:
NC_000002.11:g.(?_147173792)_(158346266_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001164872Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Pathogenic
(Apr 12, 2019) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001164872.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 14, 2023