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GRCh38/hg38 Yq11.21-12(chrY:10624004-57190586)x0 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 4, 2013
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:
RCV000141809.5

Allele description [Variation Report for GRCh38/hg38 Yq11.21-12(chrY:10624004-57190586)x0]

GRCh38/hg38 Yq11.21-12(chrY:10624004-57190586)x0

Genes:
  • LOC106128902:AZFa HERV15yq1 recombination region [Gene]
  • LOC108004538:AZFa HERV15yq2 recombination region [Gene]
  • LOC106144557:AZFb P1.2 recombination region [Gene]
  • LOC108868752:AZFb P4.1 recombination region [Gene]
  • LOC106144556:AZFb P5.1 recombination region [Gene]
  • LOC108863624:AZFb P5.2 recombination region [Gene]
  • LOC106144558:AZFc P1.1 recombination region [Gene]
  • LOC108868753:AZFc P1.1b 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]
  • DDX3Y:DEAD-box helicase 3 Y-linked [Gene - OMIM - HGNC]
  • 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]
  • 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]
  • 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]
  • CDY1B:chromodomain Y-linked 1B [Gene - HGNC]
  • CDY2A:chromodomain Y-linked 2A [Gene - OMIM - HGNC]
  • CDY2B:chromodomain Y-linked 2B [Gene - 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]
  • 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]
  • IL9R:interleukin 9 receptor [Gene - OMIM - HGNC]
  • KDM5D:lysine demethylase 5D [Gene - OMIM - HGNC]
  • LOC107522039:meiotic recombination hotspot PAR2 [Gene]
  • LOC107838685:meiotic recombination hotspot PAR2A [Gene]
  • MIR12120:microRNA 12120 [Gene - HGNC]
  • NLGN4Y:neuroligin 4 Y-linked [Gene - OMIM - HGNC]
  • RPS4Y2:ribosomal protein S4 Y-linked 2 [Gene - OMIM - HGNC]
  • SPRY3:sprouty RTK signaling antagonist 3 [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]
  • TTTY15:testis expressed transcript, Y-linked 15 [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]
  • USP9Y:ubiquitin specific peptidase 9 Y-linked [Gene - OMIM - HGNC]
  • UTY:ubiquitously transcribed tetratricopeptide repeat containing, Y-linked [Gene - OMIM - HGNC]
  • LOC101929148:uncharacterized LOC101929148 [Gene]
  • VCY1B:variable charge Y-linked 1B [Gene - OMIM - HGNC]
  • VCY:variable charge Y-linked [Gene - OMIM - HGNC]
  • VAMP7:vesicle associated membrane protein 7 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
Yq11.21-12
Genomic location:
Preferred name:
GRCh38/hg38 Yq11.21-12(chrY:10624004-57190586)x0
HGVS:
  • NC_000024.10:g.(?_10624004)_(57190586_?)del
  • NC_000024.8:g.(?_11244518)_(57746125_?)del
  • NC_000024.9:g.(?_13134518)_(59336737_?)del
Links:
dbVar: nssv3396985; dbVar: nsv995407
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000182831ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Jun 4, 2013)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot 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 1, SCV000182831.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Sep 1, 2024