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GRCh38/hg38 5p15.1-14.1(chr5:18379122-26803906)x1 AND See cases

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 22, 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:
RCV000142584.5

Allele description [Variation Report for GRCh38/hg38 5p15.1-14.1(chr5:18379122-26803906)x1]

GRCh38/hg38 5p15.1-14.1(chr5:18379122-26803906)x1

Genes:
  • LOC108175340:5p14.1 distal LINE-mediated recombination region [Gene]
  • LOC108175341:5p14.1 proximal LINE-mediated recombination region [Gene]
  • LOC129993740:ATAC-STARR-seq lymphoblastoid active region 22425 [Gene]
  • LOC129993741:ATAC-STARR-seq lymphoblastoid active region 22426 [Gene]
  • LOC129993742:ATAC-STARR-seq lymphoblastoid active region 22427 [Gene]
  • LOC129993743:ATAC-STARR-seq lymphoblastoid active region 22428 [Gene]
  • LOC129993744:ATAC-STARR-seq lymphoblastoid active region 22429 [Gene]
  • LOC126807332:BRD4-independent group 4 enhancer GRCh37_chr5:21823845-21825044 [Gene]
  • LOC126807334:BRD4-independent group 4 enhancer GRCh37_chr5:23295698-23296897 [Gene]
  • CDH18-AS1:CDH18 antisense RNA 1 [Gene - HGNC]
  • LOC126807335:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:23465882-23467081 [Gene]
  • LOC126807328:MED14-independent group 3 enhancer GRCh37_chr5:18732766-18733965 [Gene]
  • LOC126807330:MED14-independent group 3 enhancer GRCh37_chr5:20275974-20277173 [Gene]
  • LOC126807331:MED14-independent group 3 enhancer GRCh37_chr5:20679066-20680265 [Gene]
  • LOC126807333:MED14-independent group 3 enhancer GRCh37_chr5:22473807-22475006 [Gene]
  • LOC129389254:MPRA-validated peak5171 silencer [Gene]
  • LOC129389255:MPRA-validated peak5172 silencer [Gene]
  • LOC129389256:MPRA-validated peak5173 silencer [Gene]
  • LOC129389257:MPRA-validated peak5174 silencer [Gene]
  • LOC129389258:MPRA-validated peak5177 silencer [Gene]
  • LOC129389259:MPRA-validated peak5181 silencer [Gene]
  • LOC129389260:MPRA-validated peak5184 silencer [Gene]
  • LOC129389261:MPRA-validated peak5190 silencer [Gene]
  • LOC132205960:Neanderthal introgressed variant-containing enhancers experimental_84111 and experimental_84123 [Gene]
  • LOC126807329:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:19531228-19532427 [Gene]
  • PRDM9:PR/SET domain 9 [Gene - OMIM - HGNC]
  • LOC123493278:Sharpr-MPRA regulatory region 1276 [Gene]
  • LOC112997587:Sharpr-MPRA regulatory region 13238 [Gene]
  • LOC112997585:Sharpr-MPRA regulatory region 1435 [Gene]
  • LOC123493280:Sharpr-MPRA regulatory region 3372 [Gene]
  • LOC123493277:Sharpr-MPRA regulatory region 8629 [Gene]
  • LOC123493279:Sharpr-MPRA regulatory region 8980 [Gene]
  • LOC123493281:Sharpr-MPRA regulatory region 953 [Gene]
  • CDH10:cadherin 10 [Gene - OMIM - HGNC]
  • CDH12:cadherin 12 [Gene - OMIM - HGNC]
  • CDH18:cadherin 18 [Gene - OMIM - HGNC]
  • LINC02146:long intergenic non-protein coding RNA 2146 [Gene - HGNC]
  • LINC02211:long intergenic non-protein coding RNA 2211 [Gene - HGNC]
  • LINC02228:long intergenic non-protein coding RNA 2228 [Gene - OMIM - HGNC]
  • LINC02239:long intergenic non-protein coding RNA 2239 [Gene - HGNC]
  • LINC02241:long intergenic non-protein coding RNA 2241 [Gene - HGNC]
  • LINC02899:long intergenic non-protein coding RNA 2899 [Gene - HGNC]
  • SNORA105A:small nucleolar RNA, H/ACA box 105A [Gene - HGNC]
  • TRK-CTT9-1:tRNA-Lys (anticodon CTT) 9-1 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
5p15.1-14.1
Genomic location:
Preferred name:
GRCh38/hg38 5p15.1-14.1(chr5:18379122-26803906)x1
HGVS:
  • NC_000005.10:g.(?_18379122)_(26803906_?)del
  • NC_000005.8:g.(?_18414988)_(26839772_?)del
  • NC_000005.9:g.(?_18379231)_(26804015_?)del
Links:
dbVar: nssv582735; dbVar: nsv533065
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
SCV000175789ISCA site 1

See additional submitters

no assertion criteria provided
Benign
(Dec 22, 2010) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot providedclinical 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 1, SCV000175789.4

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

Last Updated: May 7, 2024