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GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918)

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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:
VCV000523290.1
Variation ID:
523290
Description:
copy number loss
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GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918)

Allele ID
514206
Variant type
copy number loss
Variant length
-
Cytogenetic location
8p23.3-23.1
Genomic location
8: 194617-6816918 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.(?_194617)_(6816918_?)del
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 RCV000626544.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CSMD1 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
181 344
DLGAP2 No evidence available No evidence available GRCh38
GRCh38
GRCh38
GRCh38
GRCh38
GRCh38
GRCh37
8 150
AGPAT5 - - GRCh38
GRCh38
GRCh37
3 107
ANGPT2 - - GRCh38
GRCh37
1 153
ARHGEF10 - - GRCh38
GRCh38
GRCh37
180 317
CLN8 - - GRCh38
GRCh38
GRCh37
291 429
DEFA4 - - GRCh38
GRCh38
GRCh37
- 96
DEFA6 - - GRCh38
GRCh38
GRCh37
1 97
DEFB1 - - GRCh38
GRCh38
GRCh37
2 101
ERICH1 - - - GRCh38
GRCh38
GRCh37
11 138

There are 7 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: SCV000747245.1
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