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GRCh38/hg38 Yq11.221-11.223(chrY:13908860-22358529)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 16, 2011
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:
RCV000136525.5

Allele description [Variation Report for GRCh38/hg38 Yq11.221-11.223(chrY:13908860-22358529)x1]

GRCh38/hg38 Yq11.221-11.223(chrY:13908860-22358529)x1

Genes:
  • LOC108868752:AZFb P4.1 recombination region [Gene]
  • LOC106144556:AZFb P5.1 recombination region [Gene]
  • LOC108863624:AZFb P5.2 recombination region [Gene]
  • LOC126057109:BRD4-independent group 4 enhancer GRCh37_chrY:22253264-22254463 [Gene]
  • LOC126057110:BRD4-independent group 4 enhancer GRCh37_chrY:22277369-22278568 [Gene]
  • LOC126057111:BRD4-independent group 4 enhancer GRCh37_chrY:22280323-22281522 [Gene]
  • LOC126057112:BRD4-independent group 4 enhancer GRCh37_chrY:22299473-22300672 [Gene]
  • LOC126057113:BRD4-independent group 4 enhancer GRCh37_chrY:22316202-22317401 [Gene]
  • LOC106144610:IR4 Yq recombination region [Gene]
  • LOC126057107:MED14-independent group 3 enhancer GRCh37_chrY:16452370-16453569 [Gene]
  • LOC126057108:MED14-independent group 3 enhancer GRCh37_chrY:19155795-19156994 [Gene]
  • LOC126057114:MED14-independent group 3 enhancer GRCh37_chrY:22339850-22341049 [Gene]
  • NLGN4Y-AS1:NLGN4Y antisense RNA 1 [Gene - HGNC]
  • PRORY:PRORY Y-linked lncRNA [Gene - HGNC]
  • PRY2:PTPN13 like Y-linked 2 [Gene - OMIM - HGNC]
  • RBMY1A1:RNA binding motif protein Y-linked family 1 member A1 [Gene - OMIM - HGNC]
  • RBMY1B:RNA binding motif protein Y-linked family 1 member B [Gene - HGNC]
  • RBMY1D:RNA binding motif protein Y-linked family 1 member D [Gene - HGNC]
  • RBMY1E:RNA binding motif protein Y-linked family 1 member E [Gene - HGNC]
  • RBMY1F:RNA binding motif protein Y-linked family 1 member F [Gene - HGNC]
  • CDY2A:chromodomain Y-linked 2A [Gene - OMIM - HGNC]
  • CDY2B:chromodomain Y-linked 2B [Gene - HGNC]
  • EIF1AY:eukaryotic translation initiation factor 1A Y-linked [Gene - OMIM - HGNC]
  • FAM197Y10:family with sequence similarity 197 Y-linked member 10 [Gene - HGNC]
  • FAM224A:family with sequence similarity 224 member A [Gene - HGNC]
  • FAM224B:family with sequence similarity 224 member B [Gene - HGNC]
  • FAM41AY1:family with sequence similarity 41 member A, Y-linked 1 [Gene - HGNC]
  • FAM41AY2:family with sequence similarity 41 member A, Y-linked 2 [Gene - HGNC]
  • HSFY1:heat shock transcription factor Y-linked 1 [Gene - OMIM - HGNC]
  • HSFY2:heat shock transcription factor Y-linked 2 [Gene - HGNC]
  • KDM5D:lysine demethylase 5D [Gene - OMIM - HGNC]
  • NLGN4Y:neuroligin 4 Y-linked [Gene - OMIM - HGNC]
  • RPS4Y2:ribosomal protein S4 Y-linked 2 [Gene - OMIM - HGNC]
  • TTTY10:testis expressed transcript, Y-linked 10 [Gene - HGNC]
  • TTTY13:testis expressed transcript, Y-linked 13 [Gene - HGNC]
  • TTTY14:testis expressed transcript, Y-linked 14 [Gene - HGNC]
  • TTTY5:testis expressed transcript, Y-linked 5 [Gene - OMIM - HGNC]
  • TTTY6B:testis expressed transcript, Y-linked 6B [Gene - HGNC]
  • TTTY9A:testis expressed transcript, Y-linked 9A [Gene - HGNC]
  • TTTY9B:testis expressed transcript, Y-linked 9B [Gene - HGNC]
  • VCY1B:variable charge Y-linked 1B [Gene - OMIM - HGNC]
  • VCY:variable charge Y-linked [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Yq11.221-11.223
Genomic location:
Preferred name:
GRCh38/hg38 Yq11.221-11.223(chrY:13908860-22358529)x1
HGVS:
  • NC_000024.10:g.(?_13908860)_(22358529_?)dup
  • NC_000024.8:g.(?_14530134)_(22914064_?)dup
  • NC_000024.9:g.(?_16020740)_(24504676_?)dup
Links:
dbVar: nssv582355; dbVar: nsv533829
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
SCV000176600ISCA site 2

See additional submitters

no assertion criteria provided
Pathogenic
(Sep 16, 2011) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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 2, SCV000176600.3

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

Last Updated: Sep 1, 2024