GRCh37/hg19 14q22.1-22.2(chr14:53820659-55003253)x1 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 16, 2014
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:: RCV000511921.3

Allele description [Variation Report for GRCh37/hg19 14q22.1-22.2(chr14:53820659-55003253)x1]

GRCh37/hg19 14q22.1-22.2(chr14:53820659-55003253)x1

Genes:: BMP4:bone morphogenetic protein 4 [Gene - OMIM - HGNC]
CGRRF1:cell growth regulator with ring finger domain 1 [Gene - OMIM - HGNC]
CNIH1:cornichon family member 1 [Gene - OMIM - HGNC]
CDKN3:cyclin dependent kinase inhibitor 3 [Gene - OMIM - HGNC]
GMFB:glia maturation factor beta [Gene - OMIM - HGNC]
Variant type:: copy number loss
Cytogenetic location:: 14q22.1-22.2
Genomic location:: Chr14: 53820659 - 55003253 (on Assembly GRCh37)
Preferred name:: GRCh37/hg19 14q22.1-22.2(chr14:53820659-55003253)x1
HGVS:: NC_000014.8:g.(?_53820659)_(55003253_?)del
This HGVS expression did not pass validation
Links:: dbVar: nssv13639302; dbVar: nsv2777444
Observations:: 1

Condition(s)

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

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PREDICTED: Homo sapiens N6-Methyl-AMP deaminase (MAPDA), transcript variant X7, ...
PREDICTED: Homo sapiens N6-Methyl-AMP deaminase (MAPDA), transcript variant X7, mRNA
gi|2462542968|ref|XM_054377391.1|

Nucleotide
Mycosphaerella latebrosa strain CBS 652.85 actin (act) gene, partial cds
Mycosphaerella latebrosa strain CBS 652.85 actin (act) gene, partial cds
gi|444843034|gb|JX902115.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000585877	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Pathogenic (Dec 16, 2014)	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

SCV000585877

ISCA site 1

See additional submitters

no assertion criteria provided

Pathogenic
(Dec 16, 2014)

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, SCV000585877.1

#	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: May 7, 2024

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