GRCh38/hg38 8p23.1(chr8:7411297-7895064)x3 AND See cases

Germline classification:: Benign (2 submissions)
Last evaluated:: Aug 12, 2011
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000148154.3

Allele description [Variation Report for GRCh38/hg38 8p23.1(chr8:7411297-7895064)x3]

GRCh38/hg38 8p23.1(chr8:7411297-7895064)x3

Genes:

DEFB103A:defensin beta 103A [Gene - HGNC]
DEFB103B:defensin beta 103B [Gene - OMIM - HGNC]
DEFB104A:defensin beta 104A [Gene - HGNC]
DEFB104B:defensin beta 104B [Gene - HGNC]
DEFB105A:defensin beta 105A [Gene - HGNC]
DEFB105B:defensin beta 105B [Gene - HGNC]
DEFB106A:defensin beta 106A [Gene - HGNC]
DEFB106B:defensin beta 106B [Gene - HGNC]
DEFB107A:defensin beta 107A [Gene - HGNC]
DEFB107B:defensin beta 107B [Gene - HGNC]
DEFB4A:defensin beta 4A [Gene - OMIM - HGNC]
DEFB4B:defensin beta 4B [Gene - HGNC]
FAM90A10:family with sequence similarity 90 member A10 [Gene - OMIM - HGNC]
FAM90A14:family with sequence similarity 90 member A14 [Gene - OMIM - HGNC]
FAM90A16:family with sequence similarity 90 member A16 [Gene - HGNC]
FAM90A17:family with sequence similarity 90 member A17 [Gene - HGNC]
FAM90A18:family with sequence similarity 90 member A18 [Gene - OMIM - HGNC]
FAM90A19:family with sequence similarity 90 member A19 [Gene - OMIM - HGNC]
FAM90A22:family with sequence similarity 90 member A22 [Gene - HGNC]
FAM90A23:family with sequence similarity 90 member A23 [Gene - HGNC]
FAM90A7:family with sequence similarity 90 member A7 [Gene - OMIM - HGNC]
FAM90A8:family with sequence similarity 90 member A8 [Gene - OMIM - HGNC]
FAM90A9:family with sequence similarity 90 member A9 [Gene - OMIM - HGNC]
PRR23D1:proline rich 23 domain containing 1 [Gene - HGNC]
PRR23D2:proline rich 23 domain containing 2 [Gene - HGNC]
LOC128966594:putative protein FAM90A9P [Gene]
SPAG11A:sperm associated antigen 11A [Gene - HGNC]
SPAG11B:sperm associated antigen 11B [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

8p23.1

Genomic location:

Preferred name:

GRCh38/hg38 8p23.1(chr8:7411297-7895064)x3

HGVS:

NC_000008.11:g.(?_7411297)_(7895064_?)dup
NC_000008.10:g.(?_7268819)_(7752586_?)dup
NC_000008.9:g.(?_7256229)_(7789996_?)dup

Links:

dbVar: nssv577736; dbVar: nssv577747; dbVar: nssv577758; dbVar: nssv577769; dbVar: nssv577781; dbVar: nssv577825; dbVar: nssv577836; dbVar: nssv577847; dbVar: nssv577858; dbVar: nssv577869; dbVar: nssv577903; dbVar: nssv577914; dbVar: nssv577925; dbVar: nssv578004; dbVar: nssv578015; dbVar: nssv578026; dbVar: nssv578081; dbVar: nsv1067702

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000190762	ISCA site 15 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	criteria provided, single submitter (Kaminsky et al. (Genet Med. 2011))	Benign (Aug 12, 2011)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000190763	ISCA site 4 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	criteria provided, single submitter (Kaminsky et al. (Genet Med. 2011))	Benign (Aug 12, 2011)	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

SCV000190762

ISCA site 15

See additional submitters

criteria provided, single submitter

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

Benign
(Aug 12, 2011)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000190763

ISCA site 4

See additional submitters

criteria provided, single submitter

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

Benign
(Aug 12, 2011)

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	17	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 ISCA site 15, SCV000190762.2

#	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

From ISCA site 4, SCV000190763.2

#	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)

#	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
2	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
3	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
4	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
5	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
6	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
7	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
8	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
9	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
10	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
11	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
12	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
13	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
14	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
15	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
16	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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