GRCh38/hg38 10p15.3(chr10:180143-245622)x3 AND See cases

Germline classification:: Benign (1 submission)
Last evaluated:: Apr 30, 2010
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:: RCV000134004.5

Allele description [Variation Report for GRCh38/hg38 10p15.3(chr10:180143-245622)x3]

GRCh38/hg38 10p15.3(chr10:180143-245622)x3

Gene:

ZMYND11:zinc finger MYND-type containing 11 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

10p15.3

Genomic location:

Preferred name:

GRCh38/hg38 10p15.3(chr10:180143-245622)x3

HGVS:

NC_000010.11:g.(?_180143)_(245622_?)dup
NC_000010.10:g.(?_226083)_(291562_?)dup
NC_000010.9:g.(?_216083)_(281562_?)dup

Links:

dbVar: nssv575992; dbVar: nsv492071

Observations:

Condition(s)

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

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PLAA phospholipase A2 activating protein [Homo sapiens]
PLAA phospholipase A2 activating protein [Homo sapiens]
Gene ID:9373

Gene
AAH32551 AND (alive[prop]) (1)
Gene
AAH32551 (0)
OMIM
Phosphoinositol 4-phosphate Adaptor Protein-1 [Homo sapiens]
Phosphoinositol 4-phosphate Adaptor Protein-1 [Homo sapiens]
gi|10198128|gb|AAG15199.1|AF286162_

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000173428	ISCA site 4 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Benign (Apr 30, 2010)	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

SCV000173428

ISCA site 4

See additional submitters

no assertion criteria provided

Benign
(Apr 30, 2010)

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 4, SCV000173428.3

#	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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