ClinVar Genomic variation as it relates to human health
NM_170662.5(CBLB):c.2702C>G (p.Ala901Gly)
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
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NM_170662.5(CBLB):c.2702C>G (p.Ala901Gly)
Variation ID: 133826 Accession: VCV000133826.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 3q13.11 3: 105659217 (GRCh38) [ NCBI UCSC ] 3: 105378061 (GRCh37) [ 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 Jun 9, 2014 Jun 9, 2014 Sep 19, 2013 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_170662.5:c.2702C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_733762.2:p.Ala901Gly missense NM_001321786.1:c.2786C>G NP_001308715.1:p.Ala929Gly missense NM_001321788.2:c.2702C>G NP_001308717.1:p.Ala901Gly missense NM_001321789.1:c.2639C>G NP_001308718.1:p.Ala880Gly missense NM_001321790.2:c.2636C>G NP_001308719.1:p.Ala879Gly missense NM_001321791.2:c.2570C>G NP_001308720.1:p.Ala857Gly missense NM_001321793.2:c.2570C>G NP_001308722.1:p.Ala857Gly missense NM_001321794.2:c.2555C>G NP_001308723.1:p.Ala852Gly missense NM_001321795.2:c.2555C>G NP_001308724.1:p.Ala852Gly missense NM_001321796.2:c.2555C>G NP_001308725.1:p.Ala852Gly missense NM_001321797.2:c.2423C>G NP_001308726.1:p.Ala808Gly missense NM_001321798.2:c.2423C>G NP_001308727.1:p.Ala808Gly missense NM_001321799.2:c.2423C>G NP_001308728.1:p.Ala808Gly missense NM_001321806.2:c.1922C>G NP_001308735.1:p.Ala641Gly missense NM_001321807.2:c.1922C>G NP_001308736.1:p.Ala641Gly missense NM_001321808.2:c.1790C>G NP_001308737.1:p.Ala597Gly missense NM_001321811.2:c.1775C>G NP_001308740.1:p.Ala592Gly missense NM_001321813.1:c.1775C>G NP_001308742.1:p.Ala592Gly missense NM_001321816.2:c.1643C>G NP_001308745.1:p.Ala548Gly missense NM_001321820.2:c.1382C>G NP_001308749.1:p.Ala461Gly missense NM_001321822.2:c.1373C>G NP_001308751.1:p.Ala458Gly missense NR_135806.2:n.3218C>G non-coding transcript variant NR_135807.2:n.3064C>G non-coding transcript variant NR_135808.2:n.3019C>G non-coding transcript variant NR_135809.2:n.2975C>G non-coding transcript variant NR_135810.2:n.2930C>G non-coding transcript variant NR_135811.2:n.2840C>G non-coding transcript variant NR_135812.1:n.2730C>G non-coding transcript variant NC_000003.12:g.105659217G>C NC_000003.11:g.105378061G>C NG_055547.1:g.215336C>G LRG_1179:g.215336C>G LRG_1179t1:c.2702C>G LRG_1179p1:p.Ala901Gly - Protein change
- A901G, A458G, A461G, A548G, A592G, A597G, A641G, A808G, A852G, A857G, A879G, A880G, A929G
- Other names
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- Canonical SPDI
- NC_000003.12:105659216:G:C
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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.
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0.00020 (C)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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1000 Genomes Project 30x 0.00016
1000 Genomes Project 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00036
The Genome Aggregation Database (gnomAD) 0.00044
The Genome Aggregation Database (gnomAD), exomes 0.00052
Exome Aggregation Consortium (ExAC) 0.00059
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00069
- Links
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. |
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| CBLB | - | - |
GRCh38 GRCh37 |
70 | 96 | |
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. |
|---|---|---|---|---|
| not provided (1) |
no classification provided
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Sep 19, 2013 | RCV000120478.1 |
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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|---|---|---|---|---|---|
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not provided
(Sep 19, 2013)
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no classification provided
Method: reference population
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AllHighlyPenetrant
Affected status: unknown
Allele origin:
germline
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ITMI
Accession: SCV000084631.1
First in ClinVar: Jun 09, 2014 Last updated: Jun 09, 2014
Comment:
Please see associated publication for description of ethnicities
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Observation 1:
Ethnicity/Population group: Whole_cohort
Observation 2:
Ethnicity/Population group: African
Observation 3:
Ethnicity/Population group: African_European
Observation 4:
Ethnicity/Population group: Central_Asian
Observation 5:
Ethnicity/Population group: East_Asian
Observation 6:
Ethnicity/Population group: European
Observation 7:
Ethnicity/Population group: Hispanic
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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 rs55821768 ...
HelpRecord last updated Dec 25, 2023
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.