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GRCh38/hg38 Yp11.2-q11.221(chrY:2783624-13011793)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:
RCV000052582.6

Allele description [Variation Report for GRCh38/hg38 Yp11.2-q11.221(chrY:2783624-13011793)x2]

GRCh38/hg38 Yp11.2-q11.221(chrY:2783624-13011793)x2

Genes:
  • LOC106128902:AZFa HERV15yq1 recombination region [Gene]
  • DDX3Y:DEAD-box helicase 3 Y-linked [Gene - OMIM - HGNC]
  • LOC106144609:IR4 Yp recombination region [Gene]
  • LOC126057106:MED14-independent group 3 enhancer GRCh37_chrY:6975278-6976477 [Gene]
  • LOC126057105:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrY:6931456-6932655 [Gene]
  • 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]
  • FAM197Y1P:family with sequence similarity 197 Y-linked member 1, pseudogene [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]
  • 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]
  • MIR9985:microRNA 9985 [Gene - HGNC]
  • PCDH11Y:protocadherin 11 Y-linked [Gene - OMIM - HGNC]
  • RPS4Y1:ribosomal protein S4 Y-linked 1 [Gene - OMIM - HGNC]
  • SRY:sex determining region Y [Gene - OMIM - HGNC]
  • TTTY11:testis expressed transcript, Y-linked 11 [Gene - HGNC]
  • TTTY12:testis expressed transcript, Y-linked 12 [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]
  • 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]
  • 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]
  • TBL1Y:transducin beta like 1 Y-linked [Gene - OMIM - HGNC]
  • USP9Y:ubiquitin specific peptidase 9 Y-linked [Gene - OMIM - HGNC]
  • ZFY:zinc finger protein Y-linked [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Yp11.2-q11.221
Genomic location:
Preferred name:
GRCh38/hg38 Yp11.2-q11.221(chrY:2783624-13011793)x2
HGVS:
  • NC_000024.10:g.(?_2783624)_(13011793_?)dup
  • NC_000024.8:g.(?_2711665)_(13633100_?)dup
  • NC_000024.9:g.(?_2651665)_(15123706_?)dup
Links:
dbVar: nssv579283; dbVar: nsv531296
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
SCV000079936ISCA 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, SCV000079936.4

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

Last Updated: May 7, 2024