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GRCh38/hg38 5q13.2(chr5:69942862-70952001)x1 AND See cases

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:
RCV000134821.5

Allele description [Variation Report for GRCh38/hg38 5q13.2(chr5:69942862-70952001)x1]

GRCh38/hg38 5q13.2(chr5:69942862-70952001)x1

Genes:
  • LOC113002590:Sharpr-MPRA regulatory region 3898 [Gene]
  • SERF1A:small EDRK-rich factor 1A [Gene - OMIM - HGNC]
  • SERF1B:small EDRK-rich factor 1B [Gene - HGNC]
  • SMN-AS1:survival motor neuron- antisense 1 [Gene]
  • SMN1:survival of motor neuron 1, telomeric [Gene - OMIM - HGNC]
  • SMN2:survival of motor neuron 2, centromeric [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
5q13.2
Genomic location:
Preferred name:
GRCh38/hg38 5q13.2(chr5:69942862-70952001)x1
HGVS:
  • NC_000005.10:g.(?_69942862)_(70952001_?)del
  • NC_000005.8:g.(?_69274445)_(70283584_?)del
  • NC_000005.9:g.(?_69238689)_(70247828_?)del
Links:
dbVar: nssv1603757; dbVar: nssv584128; dbVar: nsv497917
Observations:
2

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
SCV000174427ISCA site 4

See additional submitters

no assertion criteria provided
Benign
(Sep 21, 2012) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes2not 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 4, SCV000174427.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided
2unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024