GRCh38/hg38 Yq11.222(chrY:17251756-19149935)x2 AND See cases

Clinical significance:Conflicting interpretations of pathogenicity, Benign(1);conflicting data from submitters(1) (Last evaluated: Jan 5, 2011)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000135753.6

Allele description [Variation Report for GRCh38/hg38 Yq11.222(chrY:17251756-19149935)x2]

GRCh38/hg38 Yq11.222(chrY:17251756-19149935)x2

Genes:
  • LOC108868752:AZFb P4.1 recombination region [Gene]
  • LOC106144556:AZFb P5.1 recombination region [Gene]
  • LOC108863624:AZFb P5.2 recombination region [Gene]
  • CDY2A:chromodomain Y-linked 2A [Gene - OMIM - HGNC]
  • CDY2B:chromodomain Y-linked 2B [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]
  • TTTY14:testis-specific transcript, Y-linked 14 [Gene - HGNC]
  • TTTY9A:testis-specific transcript, Y-linked 9A [Gene - HGNC]
  • TTTY9B:testis-specific transcript, Y-linked 9B [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Yq11.222
Genomic location:
Preferred name:
GRCh38/hg38 Yq11.222(chrY:17251756-19149935)x2
HGVS:
  • NC_000024.10:g.(?_17251756)_(19149935_?)dup
  • NC_000024.8:g.(?_17873030)_(19771209_?)dup
  • NC_000024.9:g.(?_19363636)_(21311821_?)dup
Links:
dbVar: nssv576336; dbVar: nssv581957; dbVar: nssv706213; dbVar: nsv532440
Observations:
3

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
SCV000175715ISCA site 8

See additional submitters

no assertion criteria providedBenign
(Oct 20, 2010)
not providedclinical testing

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

SCV000175716ISCA site 1

See additional submitters

no assertion criteria providedconflicting data from submitters
(Jan 5, 2011)
not providedclinical testing

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

Description

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.

SCV000175715

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.

SCV000175716

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter. For data from the original published study, [Kaminsky, et al. 2011|/pubmed/21844811], please see [nstd101|/dbvar/studies/nstd101/].

SCV000175716

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes2not providednot providednot providednot providedclinical testing
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 8, SCV000175715.3

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

From ISCA site 1, SCV000175716.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2human1not providednot providedclinical testing PubMed (1)

Description

Uncertain significance(1), Likely benign (1)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided
2not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Nov 11, 2020

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