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GRCh38/hg38 8p23.1(chr8:10056979-11573632)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000052155.4

Allele description

GRCh38/hg38 8p23.1(chr8:10056979-11573632)x3

Genes:
  • BLK:BLK proto-oncogene, Src family tyrosine kinase [Gene - OMIM - HGNC]
  • FAM167A-AS1:FAM167A antisense RNA 1 [Gene - HGNC]
  • TDH:L-threonine dehydrogenase (pseudogene) [Gene - OMIM - HGNC]
  • PINX1:PIN2/TERF1 interacting telomerase inhibitor 1 [Gene - OMIM - HGNC]
  • RP1L1:RP1 like 1 [Gene - OMIM - HGNC]
  • SOX7:SRY-box 7 [Gene - OMIM - HGNC]
  • XKR6:XK related 6 [Gene - HGNC]
  • C8orf74:chromosome 8 open reading frame 74 [Gene - HGNC]
  • FAM167A:family with sequence similarity 167 member A [Gene - OMIM - HGNC]
  • MSRA:methionine sulfoxide reductase A [Gene - OMIM - HGNC]
  • MIR1322:microRNA 1322 [Gene - HGNC]
  • MIR4286:microRNA 4286 [Gene - HGNC]
  • MIR598:microRNA 598 [Gene - HGNC]
  • MTMR9:myotubularin related protein 9 [Gene - OMIM - HGNC]
  • PRSS51:protease, serine 51 [Gene - HGNC]
  • PRSS55:protease, serine 55 [Gene - OMIM - HGNC]
  • SLC35G5:solute carrier family 35 member G5 [Gene - OMIM - HGNC]
  • LINCR-0001:uncharacterized LINCR-0001 [Gene]
  • LOC101929229:uncharacterized LOC101929229 [Gene]
  • LOC101929269:uncharacterized LOC101929269 [Gene]
  • LOC102723313:uncharacterized LOC102723313 [Gene]
Variant type:
copy number gain
Cytogenetic location:
8p23.1
Genomic location:
Preferred name:
GRCh38/hg38 8p23.1(chr8:10056979-11573632)x3
HGVS:
  • NC_000008.11:g.(?_10056979)_(11573632_?)dup
  • NC_000008.10:g.(?_9914489)_(11431141_?)dup
  • NC_000008.9:g.(?_9951899)_(11468550_?)dup
Links:
dbVar: nssv581316; dbVar: nsv530866
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000079504ISCA site 1

See additional submitters

criteria provided, single submitter

(Submitter's publication)		Uncertain significance
(Aug 12, 2011) 		not providedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical 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 1, SCV000079504.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Jul 15, 2017