GRCh38/hg38 3q24(chr3:146051251-146159728)x1 AND See cases

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 30, 2011
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:: RCV000141017.3

Allele description [Variation Report for GRCh38/hg38 3q24(chr3:146051251-146159728)x1]

GRCh38/hg38 3q24(chr3:146051251-146159728)x1

Genes:

LOC129389144:MPRA-validated peak4856 silencer [Gene]
LNCSRLR:lncRNA sorafenib resistance in renal cell carcinoma associated [Gene - HGNC]
PLOD2:procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

3q24

Genomic location:

Preferred name:

GRCh38/hg38 3q24(chr3:146051251-146159728)x1

HGVS:

NC_000003.12:g.(?_146051251)_(146159728_?)del
NC_000003.10:g.(?_147251728)_(147360205_?)del
NC_000003.11:g.(?_145769038)_(145877515_?)del

Links:

dbVar: nssv1608565; dbVar: nsv932397

Observations:

Condition(s)

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

Recent activity

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Strix aluco sylvatica haplotype Sp14 NADH dehydrogenase subunit 6 gene, partial ...
Strix aluco sylvatica haplotype Sp14 NADH dehydrogenase subunit 6 gene, partial cds; tRNA-Glu gene, complete sequence; and control region, partial sequence; mitochondrial
gi|73534845|gb|DQ087159.1|

Nucleotide
Tachycineta stolzmanni cytochrome b (cytb) gene, partial cds; mitochondrial gene...
Tachycineta stolzmanni cytochrome b (cytb) gene, partial cds; mitochondrial gene for mitochondrial product
gi|19697705|gb|AY052444.1|

Nucleotide
Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 126710
Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 126710
gi|9187127|emb|AL365340.1|

Nucleotide
Gossypium profillin (PRF1) mRNA, partial cds.
Gossypium profillin (PRF1) mRNA, partial cds.
PopSet: 336318603

PopSet
J6659_mgr01 [Notropis jemezanus]
J6659_mgr01 [Notropis jemezanus]
Gene ID:63652408

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000181879	GeneDx	no assertion criteria provided	Likely benign (Apr 30, 2011)	not provided	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000181879

GeneDx

no assertion criteria provided

Likely benign
(Apr 30, 2011)

not provided

clinical testing

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

Details of each submission

From GeneDx, SCV000181879.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Oct 14, 2023

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