ClinVar Genomic variation as it relates to human health
NM_001001547.3(CD36):c.-184+13244G>A
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
-
NM_001001547.3(CD36):c.-184+13244G>A
Variation ID: 487078 Accession: VCV000487078.2
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 7q21.11 7: 80615623 (GRCh38) [ NCBI UCSC ] 7: 80244939 (GRCh37) [ 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 30, 2022 Jul 30, 2022 Jul 21, 2022 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_001001547.3:c.-184+13244G>A intron variant NM_001289911.2:c.-109+13244G>A intron variant NM_001371074.1:c.-180+13244G>A intron variant NM_001371075.1:c.-184+13244G>A intron variant NM_001371080.1:c.-185+13244G>A intron variant NM_001371081.1:c.-666+13244G>A intron variant NC_000007.14:g.80615623G>A NC_000007.13:g.80244939G>A NG_008192.1:g.18436G>A - Protein change
- Other names
- -31118A-G
- Canonical SPDI
- NC_000007.14:80615622:G:A
-
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.
-
0.39038 (A)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
1000 Genomes Project 0.39038
1000 Genomes Project 30x 0.39569
Trans-Omics for Precision Medicine (TOPMed) 0.48940
The Genome Aggregation Database (gnomAD) 0.49113
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. |
|||
CD36 | - | - |
GRCh38 GRCh37 |
232 | 255 |
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. |
---|---|---|---|---|
Benign (1) |
criteria provided, single submitter
|
Jul 21, 2022 | RCV002268206.8 |
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
(Jul 21, 2022)
|
criteria provided, single submitter
Method: case-control
|
Type 2 diabetes mellitus
Affected status: no, yes
Allele origin:
inherited
|
Faculté de Médecine, de Pharmacie et d'odontostomatologie, Université Cheikh Anta Diop
Accession: SCV002552556.1
First in ClinVar: Jul 30, 2022 Last updated: Jul 30, 2022 |
Observation 1:
Number of individuals with the variant: 3
Age: 48-65 years
Sex: female
Ethnicity/Population group: Fulani
Geographic origin: sub-Saharan Africa;Senegal
Testing laboratory: Laboratory of Human Physiology/FMPOS/UCAD
Observation 2:
Number of individuals with the variant: 1
Age: 40-49 years
Sex: female
Ethnicity/Population group: Serere
Geographic origin: sub-Saharan Africa;Senegal
Observation 3:
Number of individuals with the variant: 2
Age: 50-51 years
Sex: female
Ethnicity/Population group: Wolof
Geographic origin: sub-Saharan Africa;Senegal
Observation 4:
Number of individuals with the variant: 3
Age: 46-54 years
Sex: female
Ethnicity/Population group: Diola
Geographic origin: sub-Saharan Africa;Senegal
Observation 5:
Number of individuals with the variant: 6
Age: 38-62 years
Sex: female
Ethnicity/Population group: Fulani
Geographic origin: sub-Saharan Africa;Senegal
Observation 6:
Number of individuals with the variant: 1
Age: 50-59 years
Sex: female
Ethnicity/Population group: Serere
Geographic origin: sub-Saharan Africa;Senegal
Observation 7:
Number of individuals with the variant: 10
Age: 38-49 years
Sex: female
Ethnicity/Population group: Wolof
Geographic origin: sub-Saharan Africa;Senegal
Observation 8:
Number of individuals with the variant: 4
Age: 43-56 years
Sex: female
Ethnicity/Population group: Bambara
Geographic origin: sub-Saharan Africa;Senegal
Observation 9:
Number of individuals with the variant: 3
Age: 39-53 years
Sex: female
Ethnicity/Population group: Diola
Geographic origin: sub-Saharan Africa;Senegal
Observation 10:
Number of individuals with the variant: 1
Age: 50-59 years
Sex: female
Ethnicity/Population group: Lebou
Geographic origin: sub-Saharan Africa;Senegal
Observation 11:
Number of individuals with the variant: 6
Age: 41-59 years
Sex: female
Ethnicity/Population group: Fulani
Geographic origin: sub-Saharan Africa;Senegal
Observation 12:
Number of individuals with the variant: 3
Age: 46-56 years
Sex: female
Ethnicity/Population group: Serere
Geographic origin: sub-Saharan Africa;Senegal
Observation 13:
Number of individuals with the variant: 7
Age: 44-57 years
Sex: female
Ethnicity/Population group: Wolof
Geographic origin: sub-Saharan Africa;Senegal
Observation 14:
Number of individuals with the variant: 1
Age: 40-49 years
Sex: female
Ethnicity/Population group: Fulani
Geographic origin: sub-Saharan Africa;Senegal
Observation 15:
Number of individuals with the variant: 1
Age: 50-59 years
Sex: female
Ethnicity/Population group: Lebou
Geographic origin: sub-Saharan Africa;Senegal
Observation 16:
Number of individuals with the variant: 2
Age: 51-59 years
Sex: female
Ethnicity/Population group: Wolof
Geographic origin: sub-Saharan Africa;Senegal
Observation 17:
Number of individuals with the variant: 2
Age: 39-52 years
Sex: female
Ethnicity/Population group: Bambara
Geographic origin: sub-Saharan Africa;Senegal
Observation 18:
Number of individuals with the variant: 2
Age: 49-54 years
Sex: female
Ethnicity/Population group: Diola
Geographic origin: sub-Saharan Africa;Senegal
Observation 19:
Number of individuals with the variant: 2
Age: 56-61 years
Sex: female
Ethnicity/Population group: Fulani
Geographic origin: sub-Saharan Africa;Senegal
Observation 20:
Number of individuals with the variant: 2
Age: 37-53 years
Sex: female
Ethnicity/Population group: Lebou
Geographic origin: sub-Saharan Africa;Senegal
Observation 21:
Number of individuals with the variant: 3
Age: 42-54 years
Sex: female
Ethnicity/Population group: Serere
Geographic origin: sub-Saharan Africa;Senegal
Observation 22:
Number of individuals with the variant: 10
Age: 41-52 years
Sex: female
Ethnicity/Population group: Wolof
Geographic origin: sub-Saharan Africa;Senegal
Observation 23:
Number of individuals with the variant: 2
Age: 51-53 years
Sex: female
Ethnicity/Population group: Bambara
Geographic origin: sub-Saharan Africa;Senegal
Observation 24:
Number of individuals with the variant: 3
Age: 43-55 years
Sex: female
Ethnicity/Population group: Diola
Geographic origin: sub-Saharan Africa;Senegal
Observation 25:
Number of individuals with the variant: 8
Age: 51-58 years
Sex: female
Ethnicity/Population group: Fulani
Geographic origin: sub-Saharan Africa;Senegal
Observation 26:
Number of individuals with the variant: 1
Age: 50-59 years
Sex: female
Ethnicity/Population group: Lebou
Geographic origin: sub-Saharan Africa;Senegal
Observation 27:
Number of individuals with the variant: 3
Age: 44-60 years
Sex: female
Ethnicity/Population group: Serere
Geographic origin: sub-Saharan Africa;Senegal
Observation 28:
Number of individuals with the variant: 8
Age: 46-58 years
Sex: female
Ethnicity/Population group: Wolof
Geographic origin: sub-Saharan Africa;Senegal
|
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
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
The Multifunctionality of CD36 in Diabetes Mellitus and Its Complications-Update in Pathogenesis, Treatment and Monitoring. | Puchałowicz K | Cells | 2020 | PMID: 32796572 |
The Role of CD36 in Type 2 Diabetes Mellitus: β-Cell Dysfunction and Beyond. | Moon JS | Diabetes & metabolism journal | 2020 | PMID: 32347024 |
The origin of circulating CD36 in type 2 diabetes. | Alkhatatbeh MJ | Nutrition & diabetes | 2013 | DOI: 10.1038/nutd.2013.1 |
Identification of the oxidized low-density lipoprotein scavenger receptor CD36 in plasma: a novel marker of insulin resistance. | Handberg A | Circulation | 2006 | PMID: 16952981 |
Direct association of a promoter polymorphism in the CD36/FAT fatty acid transporter gene with Type 2 diabetes mellitus and insulin resistance. | Corpeleijn E | Diabetic medicine : a journal of the British Diabetic Association | 2006 | PMID: 16911630 |
- | - | - | - | DOI: 10.1016/j.ijdm.2010.08.002 |
- | - | - | - | DOI: 10.1038/oby.2009.412 |
Text-mined citations for rs1761667 ...
HelpRecord last updated Jun 10, 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.