ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.1(chr8:7311988-7948705)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(chr8:7311988-7948705)x1
Variation ID: 154404 Accession: VCV000154404.2
- Type and length
-
copy number loss, 636,718 bp
- Location
-
Cytogenetic: 8p23.1 8: 7311988-7948705 (GRCh38) [ NCBI UCSC ] 8: 7169510-7806227 (GRCh37) [ NCBI UCSC ] 8: 7156920-7843637 (NCBI36) [ NCBI UCSC ]
- Timeline in ClinVar
-
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)_(7948705_?)del NC_000008.10:g.(?_7169510)_(7806227_?)del NC_000008.9:g.(?_7156920)_(7843637_?)del - Protein change
- -
- Other names
- -
- Canonical SPDI
- -
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
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
-
dbVar: nssv1601277 dbVar: nssv1601310 dbVar: nssv1601384 dbVar: nssv1601388 dbVar: nssv1601419 dbVar: nssv1601502 dbVar: nssv1601536 dbVar: nssv1601773 dbVar: nssv1602038 dbVar: nssv1602087 dbVar: nssv1602107 dbVar: nssv1602128 dbVar: nssv1602303 dbVar: nssv1602791 dbVar: nssv1603259 dbVar: nssv1603333 dbVar: nssv1603370 dbVar: nssv1603380 dbVar: nssv1603570 dbVar: nssv1602347 dbVar: nssv1602390 dbVar: nssv1602513 dbVar: nssv1603578 dbVar: nssv1603694 dbVar: nssv1603714 dbVar: nssv1603716 dbVar: nssv1603821 dbVar: nssv1603854 dbVar: nssv1603858 dbVar: nssv1603955 dbVar: nssv1604089 dbVar: nssv1604191 dbVar: nssv1604217 dbVar: nssv1604228 dbVar: nssv1604438 dbVar: nssv1604445 dbVar: nssv1604521 dbVar: nssv1604575 dbVar: nssv1604587 dbVar: nssv1604764 dbVar: nssv1604794 dbVar: nssv1604826 dbVar: nssv1604880 dbVar: nssv1605014 dbVar: nssv1605066 dbVar: nssv583865 dbVar: nssv583887 dbVar: nssv583913 dbVar: nssv583957 dbVar: nssv583979 dbVar: nssv584017 dbVar: nssv584098 dbVar: nssv584104 dbVar: nssv584147 dbVar: nssv584185 dbVar: nssv584231 dbVar: nssv584246 dbVar: nssv706681 dbVar: nssv706708 dbVar: nssv706725 dbVar: nssv706734 dbVar: nssv706845 dbVar: nssv706870 dbVar: nssv584268 dbVar: nssv706650 dbVar: nssv706677 dbVar: nssv706875 dbVar: nssv706917 dbVar: nssv707015 dbVar: nssv707076 dbVar: nssv707078 dbVar: nssv707099 dbVar: nsv497787 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 26 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. |
|---|---|---|---|---|
|
See cases
|
Benign (1) |
no assertion criteria provided
|
Sep 21, 2012 | RCV000142471.5 |
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. |
|
|---|---|---|---|---|---|
|
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: SCV000174281.3
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.
|
Observation 1:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 2:
Number of individuals with the variant: 1
Clinical Features:
Autistic behavior (present)
Method: Microarray
Observation 3:
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present)
Method: Microarray
Observation 4:
Number of individuals with the variant: 1
Clinical Features:
Autism (present)
Method: Microarray
Observation 5:
Number of individuals with the variant: 1
Clinical Features:
Seizure (present)
Method: Microarray
Observation 6:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (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:
Abnormal facial shape (present) , Endocardial fibroelastosis (present)
Method: Microarray
Observation 9:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 10:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 11:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 12:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (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:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 15:
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present)
Method: Microarray
Observation 16:
Number of individuals with the variant: 1
Clinical Features:
Tetralogy of Fallot (present)
Method: Microarray
Observation 17:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 18:
Number of individuals with the variant: 1
Clinical Features:
Cleft palate (present)
Method: Microarray
Observation 19:
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present)
Method: Microarray
Observation 20:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 21:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (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:
Abnormality of head and neck (present) , Abnormal facial shape (present)
Method: Microarray
Observation 25:
Number of individuals with the variant: 1
Clinical Features:
Autism (present)
Method: Microarray
Observation 26:
Number of individuals with the variant: 1
Clinical Features:
Abnormality of the nervous system (present)
Method: Microarray
Observation 27:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (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:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 30:
Number of individuals with the variant: 1
Clinical Features:
Autism (present)
Method: Microarray
Observation 31:
Number of individuals with the variant: 1
Clinical Features:
Cleft upper lip (present) , Cleft palate (present)
Method: Microarray
Observation 32:
Number of individuals with the variant: 1
Clinical Features:
Dandy-Walker malformation (present)
Method: Microarray
Observation 33:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 34:
Number of individuals with the variant: 1
Clinical Features:
Intellectual disability (present) , Autism (present)
Method: Microarray
Observation 35:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (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:
Global developmental delay (present) , Cleft upper lip (present) , Autistic behavior (present) , Abnormality of connective tissue (present) , Bifid uvula (present)
Method: Microarray
Observation 38:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 39:
Number of individuals with the variant: 1
Clinical Features:
Abnormal facial shape (present) , Global developmental delay (present) , Hemihypertrophy of lower limb (present) , Microcephaly (present)
Method: Microarray
Observation 40:
Number of individuals with the variant: 1
Clinical Features:
Abnormal facial shape (present)
Method: Microarray
Observation 41:
Number of individuals with the variant: 1
Clinical Features:
Behavioral abnormality (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:
Behavioral abnormality (present)
Method: Microarray
Observation 44:
Number of individuals with the variant: 1
Clinical Features:
Premature birth (present) , High palate (present) , Nevus (present) , Abnormality of globe location or size (present) , Abnormality of the pupil (present) , … (more)
Premature birth (present) , High palate (present) , Nevus (present) , Abnormality of globe location or size (present) , Abnormality of the pupil (present) , Posteriorly rotated ears (present) (less)
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:
Developmental delay AND/OR other significant developmental or morphological phenotypes (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:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 49:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 50:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 51:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 52:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (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:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 57:
Number of individuals with the variant: 1
Clinical Features:
Retinal coloboma (present) , Abnormality of the tricuspid valve (present) , Global developmental delay (present) , Abnormality of the right ventricle (present) , Abnormality of … (more)
Retinal coloboma (present) , Abnormality of the tricuspid valve (present) , Global developmental delay (present) , Abnormality of the right ventricle (present) , Abnormality of cardiac atrium (present) , Small for gestational age (present) (less)
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:
Autistic behavior (present)
Method: Microarray
Observation 61:
Number of individuals with the variant: 1
Clinical Features:
Cleft palate (present)
Method: Microarray
Observation 62:
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present) , Failure to thrive (present)
Method: Microarray
Observation 63:
Number of individuals with the variant: 1
Clinical Features:
Coarctation of aorta (present) , Abnormality of the mitral valve (present) , Abnormality of the left ventricle (present) , Double outlet right ventricle (present)
Method: Microarray
Observation 64:
Number of individuals with the variant: 1
Clinical Features:
Autism (present)
Method: Microarray
Observation 65:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (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:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 68:
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present) , Violent behavior (present) , Impulsivity (present) , Autism (present) , Behavioral abnormality (present) , Irritability (present) , Premature birth (present) … (more)
Global developmental delay (present) , Violent behavior (present) , Impulsivity (present) , Autism (present) , Behavioral abnormality (present) , Irritability (present) , Premature birth (present) , Attention deficit hyperactivity disorder (present) , Seizure (present) (less)
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:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 71:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 72:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (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.