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GRCh38/hg38 1q21.1(chr1:146987841-148234205)x1

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jun 21, 2014)
Last evaluated:
Aug 12, 2011
Accession:
VCV000059866.1
Variation ID:
59866
Description:
1.2Mb copy number loss
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GRCh38/hg38 1q21.1(chr1:146987841-148234205)x1

Allele ID
74461
Variant type
copy number loss
Variant length
1,246,365 bp
Cytogenetic location
1q21.1
Genomic location
1: 146987841-148234205 (GRCh38) GRCh38 UCSC
1: 145310254-146491118 (GRCh37) GRCh37 UCSC
1: 144021611-144957742 (NCBI36) NCBI36 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.11:g.(?_146987841)_(148234205_?)del
NC_000001.10:g.(?_145310254)_(146491118_?)del
NC_000001.9:g.(?_144021611)_(144957742_?)del
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbVar: nssv579594
dbVar: nsv532395
Varsome
Comment on variant
When NCBI calculated the location of this variant on an assembly more recent than the one on which the variant was originally described, there were multiple placements. This suggests the variant falls within a region of the genome that changed significantly between assemblies. We present the highest-scoring placement here; however the variant's location should be interpreted with caution.
N.B.: Remap data for this variant included multiple placements, suggesting it falls within a region of the genome that significantly changed between assemblies. We present the highest-scoring remap placement here; however the variant's location should be interpreted with caution.
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Aug 12, 2011 RCV000053734.6

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
GJA5 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
103 375
GJA8 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
92 364
CHD1L No evidence available No evidence available GRCh38
GRCh37
59 339
ACP6 - - GRCh38
GRCh37
4 277
BCL9 - - GRCh38
GRCh37
5 279
FMO5 - - GRCh38
GRCh37
- 280
GPR89B - - GRCh38
GRCh37
1 266
LINC00624 - - - GRCh38 1 123
LINC02804 - - - GRCh38 - 120
LINC02805 - - - GRCh38 - 120

There are 11 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
(Aug 12, 2011)
criteria provided, single submitter
Method: clinical testing
See cases
Allele origin: maternal
GeneDx
Accession: SCV000081097.6
Submitted: (Jun 21, 2014)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Mar 12, 2021