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GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Sep 26, 2017)
Last evaluated:
Oct 24, 2012
Accession:
VCV000152031.1
Variation ID:
152031
Description:
copy number loss
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GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1

Allele ID
161782
Variant type
copy number loss
Variant length
-
Cytogenetic location
1q21.1-21.2
Genomic location
1: 144572470-149076087 (GRCh38) GRCh38 UCSC
1: 145415190-148809863 (GRCh37) GRCh37 UCSC
1: 144126547-147076487 (NCBI36) NCBI36 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.11:g.(?_144572470)_(149076087_?)del
NC_000001.9:g.(?_144126547)_(147076487_?)del
NC_000001.10:g.(?_145415190)_(148809863_?)del
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbVar: nssv1494837
dbVar: nssv1494840
dbVar: nsv931930
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Oct 24, 2012 RCV000140697.3

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
FAM72D - - GRCh38
GRCh37
1 28

There are 76 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
(Oct 24, 2012)
no assertion criteria provided
Method: clinical testing
See cases
Allele origin: maternal, paternal
ISCA site 1
Additional submitter:
International Standards For Cytogenomic Arrays Consortium (ISCA)
Accession: SCV000181424.4
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)

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