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GRCh37/hg19 Yq11.221-12(chrY:15415024-59349591)x0 AND See cases

Germline classification:
Pathogenic (1 submission)
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:
RCV000446382.4

Allele description [Variation Report for GRCh37/hg19 Yq11.221-12(chrY:15415024-59349591)x0]

GRCh37/hg19 Yq11.221-12(chrY:15415024-59349591)x0

Genes:
  • PRORY:PRORY Y-linked lncRNA [Gene - HGNC]
  • PRY2:PTPN13 like Y-linked 2 [Gene - OMIM - HGNC]
  • PRY:PTPN13 like Y-linked [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]
  • RBMY1J:RNA binding motif protein Y-linked family 1 member J [Gene - HGNC]
  • WASIR1:WASH and IL9R antisense RNA 1 [Gene - HGNC]
  • BPY2:basic charge Y-linked 2 [Gene - OMIM - HGNC]
  • BPY2B:basic charge Y-linked 2B [Gene - HGNC]
  • BPY2C:basic charge Y-linked 2C [Gene - HGNC]
  • CDY1:chromodomain Y-linked 1 [Gene - OMIM - HGNC]
  • CDY2A:chromodomain Y-linked 2A [Gene - OMIM - HGNC]
  • DAZ1:deleted in azoospermia 1 [Gene - OMIM - HGNC]
  • DAZ2:deleted in azoospermia 2 [Gene - OMIM - HGNC]
  • DAZ3:deleted in azoospermia 3 [Gene - OMIM - HGNC]
  • DAZ4:deleted in azoospermia 4 [Gene - OMIM - HGNC]
  • EIF1AY:eukaryotic translation initiation factor 1A Y-linked [Gene - OMIM - HGNC]
  • FAM197Y10:family with sequence similarity 197 Y-linked member 10 [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]
  • TTTY17A:testis expressed transcript, Y-linked 17A [Gene - OMIM - HGNC]
  • TTTY17B:testis expressed transcript, Y-linked 17B [Gene - HGNC]
  • TTTY17C:testis expressed transcript, Y-linked 17C [Gene - HGNC]
  • TTTY3:testis expressed transcript, Y-linked 3 [Gene - OMIM - HGNC]
  • TTTY3B:testis expressed transcript, Y-linked 3B [Gene - HGNC]
  • TTTY4:testis expressed transcript, Y-linked 4 [Gene - OMIM - HGNC]
  • TTTY4B:testis expressed transcript, Y-linked 4B [Gene - HGNC]
  • TTTY4C:testis expressed transcript, Y-linked 4C [Gene - HGNC]
  • TTTY5:testis expressed transcript, Y-linked 5 [Gene - OMIM - HGNC]
  • TTTY6:testis expressed transcript, Y-linked 6 [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]
  • TMSB4Y:thymosin beta 4 Y-linked [Gene - OMIM - HGNC]
  • UTY:ubiquitously transcribed tetratricopeptide repeat containing, Y-linked [Gene - OMIM - HGNC]
  • VCY1B:variable charge Y-linked 1B [Gene - OMIM - HGNC]
  • VCY:variable charge Y-linked [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
Yq11.221-12
Genomic location:
ChrY: 15415024 - 59349591 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 Yq11.221-12(chrY:15415024-59349591)x0
HGVS:
NC_000024.9:g.(?_15415024)_(59349591_?)del
Links:
dbVar: nssv13652656; dbVar: nsv2774920
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
SCV000500397ISCA Site 6

See additional submitters

no assertion criteria provided
Pathogenicunknownclinical 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

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 6, SCV000500397.1

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

Last Updated: Sep 1, 2024