GRCh38/hg38 9q34.3(chr9:137620211-137958459)x1 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 12, 2011
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:: RCV000052956.4

Allele description [Variation Report for GRCh38/hg38 9q34.3(chr9:137620211-137958459)x1]

GRCh38/hg38 9q34.3(chr9:137620211-137958459)x1

Genes:

LOC108281115:9q34.3 EHMT1 distal recombination region [Gene]
LOC130003136:ATAC-STARR-seq lymphoblastoid active region 29356 [Gene]
LOC130003137:ATAC-STARR-seq lymphoblastoid active region 29357 [Gene]
LOC130003138:ATAC-STARR-seq lymphoblastoid active region 29358 [Gene]
LOC130003139:ATAC-STARR-seq lymphoblastoid active region 29359 [Gene]
LOC130003141:ATAC-STARR-seq lymphoblastoid active region 29361 [Gene]
LOC130003142:ATAC-STARR-seq lymphoblastoid active region 29362 [Gene]
LOC130003143:ATAC-STARR-seq lymphoblastoid active region 29363 [Gene]
LOC130003144:ATAC-STARR-seq lymphoblastoid active region 29364 [Gene]
LOC130003145:ATAC-STARR-seq lymphoblastoid active region 29366 [Gene]
LOC130003146:ATAC-STARR-seq lymphoblastoid active region 29367 [Gene]
LOC130003147:ATAC-STARR-seq lymphoblastoid active region 29368 [Gene]
LOC130003148:ATAC-STARR-seq lymphoblastoid active region 29369 [Gene]
LOC130003149:ATAC-STARR-seq lymphoblastoid active region 29370 [Gene]
LOC130003150:ATAC-STARR-seq lymphoblastoid active region 29371 [Gene]
LOC130003140:ATAC-STARR-seq lymphoblastoid silent region 20637 [Gene]
CACNA1B-AS1:CACNA1B antisense RNA 1 [Gene - HGNC]
LOC126860799:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:140657628-140658827 [Gene]
LOC126860800:MED14-independent group 3 enhancer GRCh37_chr9:140767993-140769192 [Gene]
LOC121366036:Sharpr-MPRA regulatory region 6441 [Gene]
LOC124375254:Sharpr-MPRA regulatory region 8502 [Gene]
CACNA1B:calcium voltage-gated channel subunit alpha1 B [Gene - OMIM - HGNC]
EHMT1:euchromatic histone lysine methyltransferase 1 [Gene - OMIM - HGNC]
MIR602:microRNA 602 [Gene - HGNC]
LOC100133077:uncharacterized LOC100133077 [Gene]
LOC651337:uncharacterized LOC651337 [Gene]

Variant type:

copy number loss

Cytogenetic location:

9q34.3

Genomic location:

Preferred name:

GRCh38/hg38 9q34.3(chr9:137620211-137958459)x1

HGVS:

NC_000009.12:g.(?_137620211)_(137958459_?)del
NC_000009.10:g.(?_139634484)_(139972732_?)del
NC_000009.11:g.(?_140514663)_(140852911_?)del

Links:

dbVar: nssv578364; dbVar: nsv531669

Observations:

Condition(s)

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

Recent activity

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xl11018H03F_1290203 Xenopus ORFeome version 1.0 library Xenopus laevis cDNA clon...
xl11018H03F_1290203 Xenopus ORFeome version 1.0 library Xenopus laevis cDNA clone xl11018H03 5', mRNA sequence
gi|798034761|gnl|dbEST|79642200|gb| 498.1|

Nucleotide
Mus musculus MabB9 anti-apolipoprotein B-100 Ig kappa light chain mRNA, partial ...
Mus musculus MabB9 anti-apolipoprotein B-100 Ig kappa light chain mRNA, partial cds
gi|1613778|gb|U28969.1|MMU28969

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000080310	GeneDx	criteria provided, single submitter (Kaminsky et al. (Genet Med. 2011))	Pathogenic (Aug 12, 2011)	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

SCV000080310

GeneDx

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))

Pathogenic
(Aug 12, 2011)

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

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]

PMID:: 21844811
PMCID:: PMC3661946

Details of each submission

From GeneDx, SCV000080310.4

#	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: Oct 14, 2023

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