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GRCh38/hg38 Yp11.2-q11.223(chrY:2787210-22302412)x2 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000054342.6

Allele description [Variation Report for GRCh38/hg38 Yp11.2-q11.223(chrY:2787210-22302412)x2]

GRCh38/hg38 Yp11.2-q11.223(chrY:2787210-22302412)x2

Genes:
  • LOC106128902:AZFa HERV15yq1 recombination region [Gene]
  • LOC108004538:AZFa HERV15yq2 recombination region [Gene]
  • 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]
  • DDX3Y:DEAD-box helicase 3 Y-linked [Gene - OMIM - HGNC]
  • LOC106144609:IR4 Yp recombination region [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]
  • LOC126057106:MED14-independent group 3 enhancer GRCh37_chrY:6975278-6976477 [Gene]
  • NLGN4Y-AS1:NLGN4Y antisense RNA 1 [Gene - HGNC]
  • LOC126057105:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrY:6931456-6932655 [Gene]
  • 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]
  • LOC108178989:SRY promoter region [Gene]
  • TGIF2LY:TGFB induced factor homeobox 2 like Y-linked [Gene - OMIM - HGNC]
  • ZFY-AS1:ZFY antisense RNA 1 [Gene - HGNC]
  • AMELY:amelogenin Y-linked [Gene - OMIM - 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]
  • FAM197Y1P:family with sequence similarity 197 Y-linked member 1, pseudogene [Gene - HGNC]
  • FAM197Y10:family with sequence similarity 197 Y-linked member 10 [Gene - HGNC]
  • FAM197Y2:family with sequence similarity 197 Y-linked member 2 [Gene - HGNC]
  • FAM197Y3:family with sequence similarity 197 Y-linked member 3 [Gene - HGNC]
  • FAM197Y4:family with sequence similarity 197 Y-linked member 4 [Gene - HGNC]
  • FAM197Y5:family with sequence similarity 197 Y-linked member 5 [Gene - HGNC]
  • FAM197Y6:family with sequence similarity 197 Y-linked member 6 [Gene - HGNC]
  • FAM197Y7:family with sequence similarity 197 Y-linked member 7 [Gene - HGNC]
  • FAM197Y8:family with sequence similarity 197 Y-linked member 8 [Gene - HGNC]
  • FAM197Y9:family with sequence similarity 197 Y-linked member 9 [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]
  • LINC00278:long intergenic non-protein coding RNA 278 [Gene - HGNC]
  • LINC00279:long intergenic non-protein coding RNA 279 [Gene - HGNC]
  • LINC00280:long intergenic non-protein coding RNA 280 [Gene - HGNC]
  • KDM5D:lysine demethylase 5D [Gene - OMIM - HGNC]
  • MIR12120:microRNA 12120 [Gene - HGNC]
  • MIR9985:microRNA 9985 [Gene - HGNC]
  • NLGN4Y:neuroligin 4 Y-linked [Gene - OMIM - HGNC]
  • PCDH11Y:protocadherin 11 Y-linked [Gene - OMIM - HGNC]
  • RPS4Y1:ribosomal protein S4 Y-linked 1 [Gene - OMIM - HGNC]
  • RPS4Y2:ribosomal protein S4 Y-linked 2 [Gene - OMIM - HGNC]
  • SRY:sex determining region Y [Gene - OMIM - HGNC]
  • TTTY10:testis expressed transcript, Y-linked 10 [Gene - HGNC]
  • TTTY11:testis expressed transcript, Y-linked 11 [Gene - HGNC]
  • TTTY12:testis expressed transcript, Y-linked 12 [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]
  • TTTY16:testis expressed transcript, Y-linked 16 [Gene - HGNC]
  • TTTY18:testis expressed transcript, Y-linked 18 [Gene - HGNC]
  • TTTY19:testis expressed transcript, Y-linked 19 [Gene - HGNC]
  • TTTY1:testis expressed transcript, Y-linked 1 [Gene - HGNC]
  • TTTY1B:testis expressed transcript, Y-linked 1B [Gene - HGNC]
  • TTTY20:testis expressed transcript, Y-linked 20 [Gene - HGNC]
  • TTTY21:testis expressed transcript, Y-linked 21 [Gene - HGNC]
  • TTTY21B:testis expressed transcript, Y-linked 21B [Gene - HGNC]
  • TTTY22:testis expressed transcript, Y-linked 22 [Gene - HGNC]
  • TTTY23:testis expressed transcript, Y-linked 23 [Gene - HGNC]
  • TTTY23B:testis expressed transcript, Y-linked 23B [Gene - HGNC]
  • TTTY2:testis expressed transcript, Y-linked 2 [Gene - HGNC]
  • TTTY2B:testis expressed transcript, Y-linked 2B [Gene - HGNC]
  • TTTY5:testis expressed transcript, Y-linked 5 [Gene - OMIM - HGNC]
  • TTTY6B:testis expressed transcript, Y-linked 6B [Gene - HGNC]
  • TTTY7:testis expressed transcript, Y-linked 7 [Gene - HGNC]
  • TTTY7B:testis expressed transcript, Y-linked 7B [Gene - HGNC]
  • TTTY8:testis expressed transcript, Y-linked 8 [Gene - HGNC]
  • TTTY8B:testis expressed transcript, Y-linked 8B [Gene - HGNC]
  • TTTY9A:testis expressed transcript, Y-linked 9A [Gene - HGNC]
  • TTTY9B:testis expressed transcript, Y-linked 9B [Gene - HGNC]
  • TSPY10:testis specific protein Y-linked 10 [Gene - HGNC]
  • TSPY1:testis specific protein Y-linked 1 [Gene - OMIM - HGNC]
  • TSPY2:testis specific protein Y-linked 2 [Gene - HGNC]
  • TSPY3:testis specific protein Y-linked 3 [Gene - HGNC]
  • TSPY4:testis specific protein Y-linked 4 [Gene - HGNC]
  • TSPY8:testis specific protein Y-linked 8 [Gene - HGNC]
  • TSPY9:testis specific protein Y-linked 9 [Gene - HGNC]
  • TTTY13B:testis-specific transcript, Y-linked 13B [Gene - HGNC]
  • TMSB4Y:thymosin beta 4 Y-linked [Gene - OMIM - HGNC]
  • TBL1Y:transducin beta like 1 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]
  • VCY1B:variable charge Y-linked 1B [Gene - OMIM - HGNC]
  • VCY:variable charge Y-linked [Gene - OMIM - HGNC]
  • ZFY:zinc finger protein Y-linked [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Yp11.2-q11.223
Genomic location:
Preferred name:
GRCh38/hg38 Yp11.2-q11.223(chrY:2787210-22302412)x2
HGVS:
  • NC_000024.10:g.(?_2787210)_(22302412_?)dup
  • NC_000024.8:g.(?_2715251)_(22857947_?)dup
  • NC_000024.9:g.(?_2655251)_(24448559_?)dup
Links:
dbVar: nssv579304; dbVar: nsv532984
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
SCV000081708ISCA Site 6

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		unknownclinical 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

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA Site 6, SCV000081708.4

#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