ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.1(chr8:7311988-8222390)x1
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
GRCh38/hg38 8p23.1(chr8:7311988-8222390)x1
Variation ID: 154363 Accession: VCV000154363.2
- Type and length
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copy number loss, 910,403 bp
- Location
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Cytogenetic: 8p23.1 8: 7311988-8222390 (GRCh38) [ NCBI UCSC ] 8: 7169510-8079912 (GRCh37) [ NCBI UCSC ] 8: 7156920-8117322 (NCBI36) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Jul 10, 2015 Jul 10, 2015 Sep 21, 2012 - HGVS
-
Nucleotide Protein Molecular
consequenceNC_000008.11:g.(?_7311988)_(8222390_?)del NC_000008.10:g.(?_7169510)_(8079912_?)del NC_000008.9:g.(?_7156920)_(8117322_?)del - Protein change
- -
- Other names
- -
- Canonical SPDI
- -
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
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dbVar: nssv1602083 dbVar: nssv1602103 dbVar: nssv1602369 dbVar: nssv1602412 dbVar: nssv1602453 dbVar: nssv1602626 dbVar: nssv1602820 dbVar: nssv1603012 dbVar: nssv1603085 dbVar: nssv1603096 dbVar: nssv1603131 dbVar: nssv1603262 dbVar: nssv1603283 dbVar: nssv1603323 dbVar: nssv1603441 dbVar: nssv1603450 dbVar: nssv1603561 dbVar: nssv1603703 dbVar: nssv1603715 dbVar: nssv1603723 dbVar: nssv1603826 dbVar: nssv1603850 dbVar: nssv1604076 dbVar: nssv1604325 dbVar: nssv1604528 dbVar: nssv1604554 dbVar: nssv1604593 dbVar: nssv1604744 dbVar: nssv1604897 dbVar: nssv1604980 dbVar: nssv1604987 dbVar: nssv1605075 dbVar: nssv1605139 dbVar: nssv1605167 dbVar: nssv576272 dbVar: nssv583893 dbVar: nssv583917 dbVar: nssv584010 dbVar: nssv584055 dbVar: nssv584061 dbVar: nssv584083 dbVar: nssv584087 dbVar: nssv584117 dbVar: nssv584166 dbVar: nssv584188 dbVar: nssv584205 dbVar: nssv584212 dbVar: nssv584249 dbVar: nssv584286 dbVar: nssv706667 dbVar: nssv706701 dbVar: nssv706762 dbVar: nssv706806 dbVar: nssv706836 dbVar: nssv706856 dbVar: nssv706906 dbVar: nssv706912 dbVar: nssv706992 dbVar: nssv706998 dbVar: nssv707001 dbVar: nssv707007 dbVar: nssv707062 dbVar: nssv707080 dbVar: nssv707090 dbVar: nsv492195 dbVar: nssv1601290 dbVar: nssv1601380 dbVar: nssv1601512 dbVar: nssv1601557 dbVar: nssv1601855 dbVar: nssv1601933 VarSome
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| DEFB103A | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 192 |
| DEFB103B | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
- | 196 | |
| DEFB104A | - | - | - |
GRCh38 GRCh38 GRCh37 |
7 | 199 |
| DEFB104B | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
4 | 203 |
| DEFB105A | - | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 206 |
| DEFB105B | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
2 | 199 |
| DEFB106A | - | - | - |
GRCh38 GRCh38 GRCh37 |
6 | 208 |
| DEFB106B | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
2 | 199 |
| DEFB107A | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 203 |
| DEFB107B | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
1 | 198 |
There are 34 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
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See cases
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Benign (1) |
no assertion criteria provided
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Sep 21, 2012 | RCV000142430.5 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Benign
(Sep 21, 2012)
|
no assertion criteria provided
Method: clinical testing
|
See cases
Affected status: yes
Allele origin:
unknown
|
ISCA site 4
Additional submitter:
International Standards For Cytogenomic Arrays Consortium (ISCA)
Accession: SCV000173588.3
First in ClinVar: Sep 01, 2014 Last updated: Jul 10, 2015
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.
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Observation 1:
Number of individuals with the variant: 1
Clinical Features:
Autism (present)
Method: Microarray
Observation 2:
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present)
Method: Microarray
Observation 3:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 4:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 5:
Number of individuals with the variant: 1
Clinical Features:
Abnormality of the nervous system (present)
Method: Microarray
Observation 6:
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present)
Method: Microarray
Observation 7:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 8:
Number of individuals with the variant: 1
Clinical Features:
Hypothyroidism (present) , Abnormality of cardiac morphology (present) , Global developmental delay (present)
Method: Microarray
Observation 9:
Number of individuals with the variant: 1
Clinical Features:
Hypoplastic left heart (present)
Method: Microarray
Observation 10:
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present)
Method: Microarray
Observation 11:
Number of individuals with the variant: 1
Clinical Features:
Cerebral palsy (present)
Method: Microarray
Observation 12:
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present)
Method: Microarray
Observation 13:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 14:
Number of individuals with the variant: 1
Clinical Features:
Abnormality of head and neck (present)
Method: Microarray
Observation 15:
Number of individuals with the variant: 1
Clinical Features:
Abnormality of head and neck (present)
Method: Microarray
Observation 16:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 17:
Number of individuals with the variant: 1
Clinical Features:
Autism (present)
Method: Microarray
Observation 18:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 19:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 20:
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present)
Method: Microarray
Observation 21:
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present)
Method: Microarray
Observation 22:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 23:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 24:
Number of individuals with the variant: 1
Clinical Features:
Autism (present)
Method: Microarray
Observation 25:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 26:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 27:
Number of individuals with the variant: 1
Clinical Features:
Autism (present)
Method: Microarray
Observation 28:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 29:
Number of individuals with the variant: 1
Clinical Features:
Autism (present)
Method: Microarray
Observation 30:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 31:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 32:
Number of individuals with the variant: 1
Clinical Features:
Autism (present)
Method: Microarray
Observation 33:
Number of individuals with the variant: 1
Clinical Features:
Seizure (present)
Method: Microarray
Observation 34:
Number of individuals with the variant: 1
Clinical Features:
Autism (present) , Seizure (present)
Method: Microarray
Observation 35:
Number of individuals with the variant: 1
Clinical Features:
Autism (present)
Method: Microarray
Observation 36:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 37:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 38:
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present)
Method: Microarray
Observation 39:
Number of individuals with the variant: 1
Clinical Features:
Autism (present)
Method: Microarray
Observation 40:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 41:
Number of individuals with the variant: 1
Clinical Features:
Autism (present) , Intellectual disability (present) , Abnormal facial shape (present) , Attention deficit hyperactivity disorder (present) , Aplasia/Hypoplasia of the breasts (present)
Method: Microarray
Observation 42:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 43:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 44:
Number of individuals with the variant: 1
Clinical Features:
Autistic behavior (present) , Global developmental delay (present) , Strabismus (present) , Seizure (present)
Method: Microarray
Observation 45:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 46:
Number of individuals with the variant: 1
Clinical Features:
Intellectual disability (present)
Method: Microarray
Observation 47:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 48:
Number of individuals with the variant: 1
Clinical Features:
Autistic behavior (present) , Behavioral abnormality (present) , Ventricular septal defect (present) , Macrocephaly (present)
Method: Microarray
Observation 49:
Number of individuals with the variant: 1
Clinical Features:
Ketoacidosis (present)
Method: Microarray
Observation 50:
Number of individuals with the variant: 1
Clinical Features:
Increased body weight (present) , Muscular hypotonia (present) , Global developmental delay (present) , Seizure (present)
Method: Microarray
Observation 51:
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present) , Bifid uvula (present)
Method: Microarray
Observation 52:
Number of individuals with the variant: 1
Clinical Features:
Autism (present)
Method: Microarray
Observation 53:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 54:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 55:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 56:
Number of individuals with the variant: 1
Clinical Features:
Cleft palate (present)
Method: Microarray
Observation 57:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 58:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 59:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 60:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 61:
Number of individuals with the variant: 1
Clinical Features:
Delayed speech and language development (present)
Method: Microarray
Observation 62:
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present) , Abnormality of the Achilles tendon (present)
Method: Microarray
Observation 63:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 64:
Number of individuals with the variant: 1
Clinical Features:
Seizure (present) , Cerebral palsy (present) , Myoclonic spasms (present)
Method: Microarray
Observation 65:
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present) , Short stature (present)
Method: Microarray
Observation 66:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 67:
Number of individuals with the variant: 1
Clinical Features:
Autism (present)
Method: Microarray
Observation 68:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 69:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 70:
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present)
Method: Microarray
|
Germline Functional Evidence
| 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 germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated May 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.