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GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Feb 4, 2019)
Last evaluated:
Feb 14, 2018
Accession:
VCV000032153.2
Variation ID:
32153
Description:
3.4Mb copy number gain
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GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3

Allele ID
40818
Variant type
copy number gain
Variant length
3,354,749 bp
Cytogenetic location
1q21.1-21.2
Genomic location
1: 145215697-149076087 (GRCh38) GRCh38 UCSC
1: 146143189-148545520 (GRCh37) GRCh37 UCSC
1: 144854546-146812144 (NCBI36) NCBI36 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.9:g.(?_144854546)_(146812144_?)dup
NC_000001.10:g.(?_146143189)_(148545520_?)dup
NC_000001.11:g.(?_145215697)_(149076087_?)dup
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbVar: nssv3396032
dbVar: nssv3396128
dbVar: nssv576459
dbVar: nssv576489
dbVar: nssv582607
dbVar: nsv529309
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 no assertion criteria provided Feb 14, 2018 RCV000050688.9

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
GJA5 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
103 375
GJA8 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
93 365
CHD1L No evidence available No evidence available GRCh38
GRCh37
83 363
ACP6 - - GRCh38
GRCh37
4 277
ANKRD34A - - - GRCh38
GRCh37
- 183
ANKRD35 - - - GRCh38
GRCh37
- 185
BCL9 - - GRCh38
GRCh37
5 279
CD160 - - GRCh38
GRCh37
1 208
CH17-408M7.1 - - - GRCh38 - 51
FMO5 - - GRCh38
GRCh37
- 280

There are 69 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 25, 2013)
no assertion criteria provided
Method: clinical testing
See cases
Allele origin: not provided
ISCA site 4
Additional submitter:
International Standards For Cytogenomic Arrays Consortium (ISCA)
Accession: SCV000175274.3
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)
Likely pathogenic
(Feb 14, 2018)
no assertion criteria provided
Method: clinical testing
See cases
Allele origin: not provided
ISCA site 1
Accession: SCV000175275.5
Submitted: (Feb 04, 2019)
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)

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 May 19, 2021