GRCh38/hg38 10q26.3(chr10:133538858-133620609)x3 AND See cases

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign (1 submission)
Last evaluated:: Sep 21, 2012
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:: RCV000142475.4

Allele description

GRCh38/hg38 10q26.3(chr10:133538858-133620609)x3

Genes:

CYP2E1:cytochrome P450 family 2 subfamily E member 1 [Gene - OMIM - HGNC]
SYCE1:synaptonemal complex central element protein 1 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

10q26.3

Genomic location:

Preferred name:

GRCh38/hg38 10q26.3(chr10:133538858-133620609)x3

HGVS:

NC_000010.11:g.(?_133538858)_(133620609_?)dup
NC_000010.10:g.(?_135352362)_(135434113_?)dup
NC_000010.9:g.(?_135202352)_(135284103_?)dup

Links:

dbVar: nssv1601313; dbVar: nssv1601365; dbVar: nssv1601414; dbVar: nssv1601603; dbVar: nssv1601681; dbVar: nssv1601701; dbVar: nssv1601861; dbVar: nssv1601917; dbVar: nssv1602053; dbVar: nssv1602150; dbVar: nssv1602255; dbVar: nssv1602529; dbVar: nssv1602806; dbVar: nssv1602817; dbVar: nssv1603044; dbVar: nssv1603456; dbVar: nssv1603474; dbVar: nssv1603574; dbVar: nssv1603580; dbVar: nssv1603948; dbVar: nssv1604198; dbVar: nssv1604292; dbVar: nssv1604428; dbVar: nssv1604561; dbVar: nssv1604828; dbVar: nssv583854; dbVar: nssv583858; dbVar: nssv583916; dbVar: nssv583950; dbVar: nssv583990; dbVar: nssv584020; dbVar: nssv584037; dbVar: nssv584150; dbVar: nssv584168; dbVar: nssv584199; dbVar: nssv584275; dbVar: nssv706726; dbVar: nssv706860; dbVar: nssv706868; dbVar: nssv707018; dbVar: nsv497823

Observations:

Condition(s)

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

Recent activity

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Homo sapiens IZUMO family member 4 (IZUMO4), transcript variant 1, mRNA
Homo sapiens IZUMO family member 4 (IZUMO4), transcript variant 1, mRNA
gi|1677501801|ref|NM_001031735.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000174323	ISCA site 4 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Benign (Sep 21, 2012)	not provided	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

SCV000174323

ISCA site 4

See additional submitters

no assertion criteria provided

Benign
(Sep 21, 2012)

not provided

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	40	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, SCV000174323.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)
2	not provided	1	not provided	not provided	clinical testing	PubMed (1)
3	not provided	1	not provided	not provided	clinical testing	PubMed (1)
4	not provided	1	not provided	not provided	clinical testing	PubMed (1)
5	not provided	1	not provided	not provided	clinical testing	PubMed (1)
6	not provided	1	not provided	not provided	clinical testing	PubMed (1)
7	not provided	1	not provided	not provided	clinical testing	PubMed (1)
8	not provided	1	not provided	not provided	clinical testing	PubMed (1)
9	not provided	1	not provided	not provided	clinical testing	PubMed (1)
10	not provided	1	not provided	not provided	clinical testing	PubMed (1)
11	not provided	1	not provided	not provided	clinical testing	PubMed (1)
12	not provided	1	not provided	not provided	clinical testing	PubMed (1)
13	not provided	1	not provided	not provided	clinical testing	PubMed (1)
14	not provided	1	not provided	not provided	clinical testing	PubMed (1)
15	not provided	1	not provided	not provided	clinical testing	PubMed (1)
16	not provided	1	not provided	not provided	clinical testing	PubMed (1)
17	not provided	1	not provided	not provided	clinical testing	PubMed (1)
18	not provided	1	not provided	not provided	clinical testing	PubMed (1)
19	not provided	1	not provided	not provided	clinical testing	PubMed (1)
20	not provided	1	not provided	not provided	clinical testing	PubMed (1)
21	not provided	1	not provided	not provided	clinical testing	PubMed (1)
22	not provided	1	not provided	not provided	clinical testing	PubMed (1)
23	not provided	1	not provided	not provided	clinical testing	PubMed (1)
24	not provided	1	not provided	not provided	clinical testing	PubMed (1)
25	not provided	1	not provided	not provided	clinical testing	PubMed (1)
26	not provided	1	not provided	not provided	clinical testing	PubMed (1)
27	not provided	1	not provided	not provided	clinical testing	PubMed (1)
28	not provided	1	not provided	not provided	clinical testing	PubMed (1)
29	not provided	1	not provided	not provided	clinical testing	PubMed (1)
30	not provided	1	not provided	not provided	clinical testing	PubMed (1)
31	not provided	1	not provided	not provided	clinical testing	PubMed (1)
32	not provided	1	not provided	not provided	clinical testing	PubMed (1)
33	not provided	1	not provided	not provided	clinical testing	PubMed (1)
34	not provided	1	not provided	not provided	clinical testing	PubMed (1)
35	not provided	1	not provided	not provided	clinical testing	PubMed (1)
36	not provided	1	not provided	not provided	clinical testing	PubMed (1)
37	not provided	1	not provided	not provided	clinical testing	PubMed (1)
38	not provided	1	not provided	not provided	clinical testing	PubMed (1)
39	not provided	1	not provided	not provided	clinical testing	PubMed (1)
40	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	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
2	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
3	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
4	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
5	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
6	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
7	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
8	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
9	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
10	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
11	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
12	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
13	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
14	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
15	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
16	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
17	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
18	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
19	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
20	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
21	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
22	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
23	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
24	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
25	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
26	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
27	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
28	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
29	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
30	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
31	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
32	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
33	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
34	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
35	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
36	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
37	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
38	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
39	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
40	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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