GRCh38/hg38 5q13.2(chr5:70547802-71090773)x3 AND See cases

Germline classification:: Benign (1 submission)
Last evaluated:: Mar 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:: RCV000133949.5

Allele description [Variation Report for GRCh38/hg38 5q13.2(chr5:70547802-71090773)x3]

GRCh38/hg38 5q13.2(chr5:70547802-71090773)x3

Genes:

LOC111089946:NAIP promoter region [Gene]
NAIP:NLR family apoptosis inhibitory protein [Gene - OMIM - HGNC]
GTF2H2:general transcription factor IIH subunit 2 [Gene - OMIM - HGNC]
SERF1A:small EDRK-rich factor 1A [Gene - OMIM - HGNC]
SNORD13B-2:small nucleolar RNA, C/D box 13B-2 [Gene - HGNC]
SMN-AS1:survival motor neuron- antisense 1 [Gene]
SMN1:survival of motor neuron 1, telomeric [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

5q13.2

Genomic location:

Preferred name:

GRCh38/hg38 5q13.2(chr5:70547802-71090773)x3

HGVS:

NC_000005.10:g.(?_70547802)_(71090773_?)dup
NC_000005.8:g.(?_69879385)_(70422356_?)dup
NC_000005.9:g.(?_69843629)_(70386600_?)dup

Links:

dbVar: nssv575876; dbVar: nsv492019

Observations:

Condition(s)

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

Recent activity

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PREDICTED: Homo sapiens TATA-box binding protein associated factor, RNA polymera...
PREDICTED: Homo sapiens TATA-box binding protein associated factor, RNA polymerase I subunit A (TAF1A), transcript variant X1, misc_RNA
gi|2462515149|ref|XR_008486202.1|

Nucleotide
PREDICTED: Homo sapiens TATA-box binding protein associated factor, RNA polymera...
PREDICTED: Homo sapiens TATA-box binding protein associated factor, RNA polymerase I subunit A (TAF1A), transcript variant X3, misc_RNA
gi|2217272114|ref|XR_007064852.1|

Nucleotide
TATA box-binding protein-associated factor RNA polymerase I subunit A isoform X5...
TATA box-binding protein-associated factor RNA polymerase I subunit A isoform X5 [Homo sapiens]
gi|2217272123|ref|XP_047289557.1|

Protein
putative G3BP-like protein isoform X3 [Glycine soja]
putative G3BP-like protein isoform X3 [Glycine soja]
gi|1590643544|ref|XP_028222964.1|

Protein
Homo sapiens cDNA PSEC0096 fis, clone NT2RP2002060, highly similar to Claudin-2
Homo sapiens cDNA PSEC0096 fis, clone NT2RP2002060, highly similar to Claudin-2
gi|22761472|dbj|AK075405.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000173370	ISCA site 4 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Benign (Mar 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

SCV000173370

ISCA site 4

See additional submitters

no assertion criteria provided

Benign
(Mar 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, SCV000173370.3

#	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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