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GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 8, 2017)
Last evaluated:
Jan 1, 2017
Accession:
VCV000523288.1
Variation ID:
523288
Description:
copy number gain
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GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)

Allele ID
514204
Variant type
copy number gain
Variant length
-
Cytogenetic location
8p23.1-21.2
Genomic location
8: 12580104-25947329 (GRCh37) GRCh37 UCSC
HGVS
-
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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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 Jan 1, 2017 RCV000626542.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NEFL No evidence available No evidence available GRCh38
GRCh37
355 432
PSD3 No evidence available No evidence available GRCh38
GRCh37
30 110
ADAM28 - - GRCh38
GRCh37
- 76
ADAM7 - - GRCh38
GRCh37
- 75
ADAMDEC1 - - GRCh38
GRCh37
- 80
ASAH1 - - GRCh38
GRCh37
332 417
ASAH1-AS1 - - - GRCh38
GRCh37
- 83
ATP6V1B2 - - GRCh38
GRCh37
41 112
BIN3 - - GRCh38
GRCh37
1 73
BMP1 - - GRCh38
GRCh37
199 289

There are 69 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) 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
(Jan 01, 2017)
criteria provided, single submitter
Method: clinical testing
Autistic disorder of childhood onset
Delayed fine motor development
Delayed speech and language development
Intellectual disability, mild
Low-set ears
Micrognathia
Narrow forehead
Wide nasal bridge
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV000747243.1
Submitted: (Dec 08, 2017)
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 Sep 24, 2021