GRCh37/hg19 1q42.12-42.13(chr1:226871745-229906954)x1 AND See cases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 20, 2016
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:: RCV000240001.1

Allele description [Variation Report for GRCh37/hg19 1q42.12-42.13(chr1:226871745-229906954)x1]

GRCh37/hg19 1q42.12-42.13(chr1:226871745-229906954)x1

Genes:

ARF1:ADP ribosylation factor 1 [Gene - OMIM - HGNC]
ABCB10:ATP binding cassette subfamily B member 10 [Gene - OMIM - HGNC]
CDC42BPA:CDC42 binding protein kinase alpha [Gene - OMIM - HGNC]
H2AW:H2A.W histone [Gene - OMIM - HGNC]
H2BU1:H2B.U histone 1 [Gene - OMIM - HGNC]
H3-4:H3.4 histone [Gene - OMIM - HGNC]
RAB4A:RAB4A, member RAS oncogene family [Gene - OMIM - HGNC]
SPHAR:S-phase response (cyclin related) [Gene - HGNC]
TAF5L:TATA-box binding protein associated factor 5 like [Gene - HGNC]
URB2:URB2 ribosome biogenesis homolog [Gene - OMIM - HGNC]
WNT3A:Wnt family member 3A [Gene - OMIM - HGNC]
WNT9A:Wnt family member 9A [Gene - OMIM - HGNC]
ACTA1:actin alpha 1, skeletal muscle [Gene - OMIM - HGNC]
BTNL10:butyrophilin like 10 [Gene - HGNC]
CCSAP:centriole, cilia and spindle associated protein [Gene - OMIM - HGNC]
C1orf35:chromosome 1 open reading frame 35 [Gene - HGNC]
COQ8A:coenzyme Q8A [Gene - OMIM - HGNC]
GJC2:gap junction protein gamma 2 [Gene - OMIM - HGNC]
GUK1:guanylate kinase 1 [Gene - OMIM - HGNC]
ITPKB:inositol-trisphosphate 3-kinase B [Gene - OMIM - HGNC]
IBA57:iron-sulfur cluster assembly factor IBA57 [Gene - OMIM - HGNC]
JMJD4:jumonji domain containing 4 [Gene - HGNC]
MRPL55:mitochondrial ribosomal protein L55 [Gene - OMIM - HGNC]
NUP133:nucleoporin 133 [Gene - OMIM - HGNC]
OBSCN:obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF [Gene - OMIM - HGNC]
PSEN2:presenilin 2 [Gene - OMIM - HGNC]
RHOU:ras homolog family member U [Gene - OMIM - HGNC]
RNF187:ring finger protein 187 [Gene - OMIM - HGNC]
PRSS38:serine protease 38 [Gene - HGNC]
SNAP47:synaptosome associated protein 47 [Gene - OMIM - HGNC]
TRIM11:tripartite motif containing 11 [Gene - OMIM - HGNC]
TRIM17:tripartite motif containing 17 [Gene - OMIM - HGNC]
ZNF678:zinc finger protein 678 [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

1q42.12-42.13

Genomic location:

Chr1: 226871745 - 229906954 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 1q42.12-42.13(chr1:226871745-229906954)x1

HGVS:

NC_000001.10:g.(?_226871745)_(229906954_?)del

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000298954	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Jan 20, 2016)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000298954

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Jan 20, 2016)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000298954.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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