GRCh38/hg38 3p26.1-25.3(chr3:7401136-8995777)x3 AND See cases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 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:: RCV000133877.5

Allele description [Variation Report for GRCh38/hg38 3p26.1-25.3(chr3:7401136-8995777)x3]

GRCh38/hg38 3p26.1-25.3(chr3:7401136-8995777)x3

Genes:

LOC129936107:ATAC-STARR-seq lymphoblastoid active region 19390 [Gene]
LOC129936108:ATAC-STARR-seq lymphoblastoid active region 19391 [Gene]
LOC129936109:ATAC-STARR-seq lymphoblastoid active region 19392 [Gene]
LOC129936110:ATAC-STARR-seq lymphoblastoid active region 19393 [Gene]
LOC129936113:ATAC-STARR-seq lymphoblastoid active region 19394 [Gene]
LOC129936114:ATAC-STARR-seq lymphoblastoid active region 19395 [Gene]
LOC129936111:ATAC-STARR-seq lymphoblastoid silent region 14028 [Gene]
LOC129936112:ATAC-STARR-seq lymphoblastoid silent region 14029 [Gene]
LOC126806598:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:8361398-8362597 [Gene]
GRM7-AS1:GRM7 antisense RNA 1 [Gene - HGNC]
LMCD1:LIM and cysteine rich domains 1 [Gene - OMIM - HGNC]
LMCD1-AS1:LMCD1 antisense RNA 1 [Gene - HGNC]
LOC126806597:MED14-independent group 3 enhancer GRCh37_chr3:8082288-8083487 [Gene]
LOC129389019:MPRA-validated peak4531 silencer [Gene]
LOC126806599:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:8911034-8912233 [Gene]
RAD18:RAD18 E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
SRGAP3:SLIT-ROBO Rho GTPase activating protein 3 [Gene - OMIM - HGNC]
LOC122889024:Sharpr-MPRA regulatory region 1018 [Gene]
LOC121009637:Sharpr-MPRA regulatory region 2381 [Gene]
LOC122889026:Sharpr-MPRA regulatory region 3594 [Gene]
LOC122889025:Sharpr-MPRA regulatory region 4351 [Gene]
CAV3:caveolin 3 [Gene - OMIM - HGNC]
GRM7:glutamate metabotropic receptor 7 [Gene - OMIM - HGNC]
LINC00312:long intergenic non-protein coding RNA 312 [Gene - OMIM - HGNC]
OXTR:oxytocin receptor [Gene - OMIM - HGNC]
SSUH2:ssu-2 homolog [Gene - OMIM - HGNC]
LOC101927394:uncharacterized LOC101927394 [Gene]

Variant type:

copy number gain

Cytogenetic location:

3p26.1-25.3

Genomic location:

Preferred name:

GRCh38/hg38 3p26.1-25.3(chr3:7401136-8995777)x3

HGVS:

NC_000003.12:g.(?_7401136)_(8995777_?)dup
NC_000003.10:g.(?_7417823)_(9012461_?)dup
NC_000003.11:g.(?_7442823)_(9037461_?)dup

Links:

dbVar: nssv575798; dbVar: nsv491962

Observations:

Condition(s)

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

Recent activity

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Homo sapiens SUZ RNA binding domain containing 1 (SZRD1), transcript variant 1, ...
Homo sapiens SUZ RNA binding domain containing 1 (SZRD1), transcript variant 1, mRNA
gi|1519246439|ref|NM_001114600.3|

Nucleotide
cGMP-dependent 3',5'-cyclic phosphodiesterase isoform PDE2A3 [Homo sapiens]
cGMP-dependent 3',5'-cyclic phosphodiesterase isoform PDE2A3 [Homo sapiens]
gi|4505657|ref|NP_002590.1|

Protein
Thermococcus sp. AV10 threonyl-tRNA synthetase gene, partial cds
Thermococcus sp. AV10 threonyl-tRNA synthetase gene, partial cds
gi|808215854|gb|KP188471.1|

Nucleotide
DB358954 HEMBB1 Homo sapiens cDNA clone HEMBB1000355 3', mRNA sequence
DB358954 HEMBB1 Homo sapiens cDNA clone HEMBB1000355 3', mRNA sequence
gi|83486709|gnl|dbEST|34510526|dbj| 954.1|

Nucleotide
Homo sapiens dynein light chain Tctex-type 3 (DYNLT3), mRNA
Homo sapiens dynein light chain Tctex-type 3 (DYNLT3), mRNA
gi|1519244370|ref|NM_006520.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000173294	ISCA site 4 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Uncertain significance (Jan 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

SCV000173294

ISCA site 4

See additional submitters

no assertion criteria provided

Uncertain significance
(Jan 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, SCV000173294.3

#	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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