GRCh38/hg38 14q13.2(chr14:35696014-36030164)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:: RCV000051514.4

Allele description [Variation Report for GRCh38/hg38 14q13.2(chr14:35696014-36030164)x1]

GRCh38/hg38 14q13.2(chr14:35696014-36030164)x1

Genes:

LOC130055499:ATAC-STARR-seq lymphoblastoid silent region 5680 [Gene]
LOC130055500:ATAC-STARR-seq lymphoblastoid silent region 5681 [Gene]
LOC130055501:ATAC-STARR-seq lymphoblastoid silent region 5682 [Gene]
BRMS1L:BRMS1 like transcriptional repressor [Gene - OMIM - HGNC]
LOC126861917:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:36416980-36418179 [Gene]
RALGAPA1:Ral GTPase activating protein catalytic subunit alpha 1 [Gene - OMIM - HGNC]
SNORA101B:small nucleolar RNA, H/ACA box 101B [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

14q13.2

Genomic location:

Preferred name:

GRCh38/hg38 14q13.2(chr14:35696014-36030164)x1

HGVS:

NC_000014.9:g.(?_35696014)_(36030164_?)del
NC_000014.7:g.(?_35234971)_(35569121_?)del
NC_000014.8:g.(?_36165220)_(36499370_?)del

Links:

dbVar: nssv577463; dbVar: nsv530036

Observations:

Condition(s)

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

Recent activity

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Mus musculus 232000009816540 genomic scaffold, whole genome shotgun sequence
Mus musculus 232000009816540 genomic scaffold, whole genome shotgun sequence
gi|74140732|gnl|WGS:AAHY|2320000098 |gb|CH466580.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000078862	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

SCV000078862

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, SCV000078862.4

#	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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