NCBI36/hg18 1q21.1-44(chr1:144764751-146294712)x1 AND See cases

Germline classification:: Pathogenic (1 submission)
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:: RCV000453200.3

Allele description [Variation Report for NCBI36/hg18 1q21.1-44(chr1:144764751-146294712)x1]

NCBI36/hg18 1q21.1-44(chr1:144764751-146294712)x1

Variant type:: copy number loss
Cytogenetic location:: 1q21.1-44
Genomic location:: Chr1: 144764751 - 247199719 (on Assembly NCBI36)
Preferred name:: NCBI36/hg18 1q21.1-44(chr1:144764751-146294712)x1
HGVS:: NC_000001.9:g.(?_144764751)_(146294712_247199719)del
This HGVS expression did not pass validation
Links:: dbVar: nssv13641209; dbVar: nsv2770146
Observations:: 1

Condition(s)

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

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Homo sapiens TM4SF2 gene for transmembrane 4 superfamily member 2, partial cds, ...
Homo sapiens TM4SF2 gene for transmembrane 4 superfamily member 2, partial cds, isolate: X9
gi|33353828|dbj|AB102529.1|

Nucleotide
Homo sapiens neuromedin B receptor, mRNA (cDNA clone MGC:111765 IMAGE:7001999), ...
Homo sapiens neuromedin B receptor, mRNA (cDNA clone MGC:111765 IMAGE:7001999), complete cds
gi|66267637|gb|BC095542.1|

Nucleotide
USP9YP33 USP9Y pseudogene 33 [Homo sapiens]
USP9YP33 USP9Y pseudogene 33 [Homo sapiens]
Gene ID:106478931

Gene
Rattus norvegicus mRNA for very-long-chain Acyl-CoA dehydrogenase, complete cds
Rattus norvegicus mRNA for very-long-chain Acyl-CoA dehydrogenase, complete cds
gi|533356|dbj|D30647.1|RATVLCAD

Nucleotide
CDY20P chromodomain Y-linked 20 pseudogene [Homo sapiens]
CDY20P chromodomain Y-linked 20 pseudogene [Homo sapiens]
Gene ID:386742

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000495540	ISCA site 19	no assertion criteria provided	Pathogenic	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000495540

ISCA site 19

no assertion criteria provided

Pathogenic

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]

PMID:: 20466091
PMCID:: PMC2869000

Details of each submission

From ISCA site 19, SCV000495540.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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