NCBI36/hg18 5q31.2-32(chr5:138306445-143964773)x3 AND See cases

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 24, 2012
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:: RCV000511493.2

Allele description

NCBI36/hg18 5q31.2-32(chr5:138306445-143964773)x3

Variant type:

copy number gain

Cytogenetic location:

5q31.2-32

Genomic location:

Chr5: 138306445 - 143964773 (on Assembly NCBI36)

Preferred name:

NCBI36/hg18 5q31.2-32(chr5:138306445-143964773)x3

HGVS:

Links:

dbVar: nssv14082454; dbVar: nsv3109837

Observations:

Condition(s)

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

Recent activity

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Polycera capensis voucher CAS:IZ 176206 histone H3 (H3) gene, partial cds
Polycera capensis voucher CAS:IZ 176206 histone H3 (H3) gene, partial cds
gi|2220286354|gb|MZ399580.1|

Nucleotide
Vayssierea sp. CAS IZ 190731 voucher CAS:IZ 190731 histone H3 (H3) gene, partial...
Vayssierea sp. CAS IZ 190731 voucher CAS:IZ 190731 histone H3 (H3) gene, partial cds
gi|2220286368|gb|MZ399587.1|

Nucleotide
protein kinase C delta type [Rattus norvegicus]
protein kinase C delta type [Rattus norvegicus]
gi|2028695448|ref|NP_579841.2|

Protein
cytochrome c oxidase subunit I, partial (mitochondrion) [Acantholumpenus mackayi...
cytochrome c oxidase subunit I, partial (mitochondrion) [Acantholumpenus mackayi]
gi|2743177902|gb|XBS34903.1|

Protein
Benign peripheral nerve sheath tumor
Benign peripheral nerve sheath tumor

MedGen

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000586371	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Likely pathogenic (Oct 24, 2012)	de novo	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

SCV000586371

ISCA site 1

See additional submitters

no assertion criteria provided

Likely pathogenic
(Oct 24, 2012)

de novo

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	de novo	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 1, SCV000586371.1

#	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	de novo	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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