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

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);conflicting data from submitters(1)

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Sep 26, 2017)
Last evaluated:
Jan 5, 2011
Accession:
VCV000146459.1
Variation ID:
146459
Description:
1.9Mb copy number gain
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GRCh38/hg38 Yq11.222(chrY:17251756-19149935)x2

Allele ID
156210
Variant type
copy number gain
Variant length
1,898,180 bp
Cytogenetic location
Yq11.222
Genomic location
Y: 17251756-19149935 (GRCh38) GRCh38 UCSC
Y: 19363636-21311821 (GRCh37) GRCh37 UCSC
Y: 17873030-19771209 (NCBI36) NCBI36 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000024.8:g.(?_17873030)_(19771209_?)dup
NC_000024.10:g.(?_17251756)_(19149935_?)dup
NC_000024.9:g.(?_19363636)_(21311821_?)dup
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbVar: nssv576336
dbVar: nssv581957
dbVar: nssv706213
dbVar: nsv532440
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 no assertion criteria provided Jan 5, 2011 RCV000135753.6

Clinical features observed in individuals with this variant

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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CDY2A - - GRCh38
GRCh37
1 80
CDY2B - - - GRCh38 - 36
FAM224A - - - GRCh38 - 35
FAM224B - - - GRCh38 - 35
FAM41AY1 - - - GRCh38 - 35
FAM41AY2 - - - GRCh38 - 35
HSFY1 - - GRCh38
GRCh37
1 82
HSFY2 - - - GRCh38
GRCh37
1 87
LOC106144556 - - - GRCh38 - 36
LOC108863624 - - - GRCh38 - 36

There are 4 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Oct 20, 2010)
no assertion criteria provided
Method: clinical testing
See cases
Allele origin: not provided
ISCA site 8
Additional submitter:
International Standards For Cytogenomic Arrays Consortium (ISCA)
Accession: SCV000175715.3
Submitted: (Jun 21, 2014)
Comment:
Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.
Evidence details
Publications
PubMed (1)
conflicting data from submitters
(Jan 05, 2011)
no assertion criteria provided
Method: clinical testing
See cases
Allele origin: not provided
ISCA site 1
Additional submitter:
International Standards For Cytogenomic Arrays Consortium (ISCA)
Accession: SCV000175716.4
Submitted: (Sep 26, 2017)
Comments (2):
Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.
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 … (more)
Evidence details
Publications
PubMed (1)
Comment:
Uncertain significance(1), Likely benign (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Miller DT American journal of human genetics 2010 PMID: 20466091

Record last updated Nov 11, 2020