ClinVar Genomic variation as it relates to human health
NM_001385503.1(CAPRIN2):c.247G>A (p.Val83Ile)
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_001385503.1(CAPRIN2):c.247G>A (p.Val83Ile)
Variation ID: 2246684 Accession: VCV002246684.2
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 12p11.21 12: 30741100 (GRCh38) [ NCBI UCSC ] 12: 30894034 (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 Feb 8, 2023 May 1, 2024 May 16, 2022 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_001385503.1:c.247G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001372432.1:p.Val83Ile missense NM_001002259.3:c.490G>A NP_001002259.1:p.Val164Ile missense NM_001206856.3:c.490G>A NP_001193785.1:p.Val164Ile missense NM_001319842.2:c.-427G>A 5 prime UTR NM_001319843.2:c.490G>A NP_001306772.1:p.Val164Ile missense NM_001319844.2:c.247G>A NP_001306773.1:p.Val83Ile missense NM_001319845.2:c.247G>A NP_001306774.1:p.Val83Ile missense NM_001319846.2:c.247G>A NP_001306775.1:p.Val83Ile missense NM_001385498.1:c.490G>A NP_001372427.1:p.Val164Ile missense NM_001385499.1:c.490G>A NP_001372428.1:p.Val164Ile missense NM_001385500.1:c.490G>A NP_001372429.1:p.Val164Ile missense NM_001385501.1:c.247G>A NP_001372430.1:p.Val83Ile missense NM_001385502.1:c.247G>A NP_001372431.1:p.Val83Ile missense NM_001385504.1:c.247G>A NP_001372433.1:p.Val83Ile missense NM_001385505.1:c.247G>A NP_001372434.1:p.Val83Ile missense NM_001385506.1:c.247G>A NP_001372435.1:p.Val83Ile missense NM_001385507.1:c.247G>A NP_001372436.1:p.Val83Ile missense NM_001385508.1:c.247G>A NP_001372437.1:p.Val83Ile missense NM_001385509.1:c.247G>A NP_001372438.1:p.Val83Ile missense NM_001385510.1:c.247G>A NP_001372439.1:p.Val83Ile missense NM_001385511.1:c.247G>A NP_001372440.1:p.Val83Ile missense NM_001385512.1:c.247G>A NP_001372441.1:p.Val83Ile missense NM_001385513.1:c.247G>A NP_001372442.1:p.Val83Ile missense NM_001385514.1:c.247G>A NP_001372443.1:p.Val83Ile missense NM_001385515.1:c.247G>A NP_001372444.1:p.Val83Ile missense NM_001385516.1:c.490G>A NP_001372445.1:p.Val164Ile missense NM_001385518.1:c.490G>A NP_001372447.1:p.Val164Ile missense NM_001385519.1:c.247G>A NP_001372448.1:p.Val83Ile missense NM_001385520.1:c.247G>A NP_001372449.1:p.Val83Ile missense NM_001385521.1:c.247G>A NP_001372450.1:p.Val83Ile missense NM_001385522.1:c.247G>A NP_001372451.1:p.Val83Ile missense NM_001385523.1:c.247G>A NP_001372452.1:p.Val83Ile missense NM_001385524.1:c.247G>A NP_001372453.1:p.Val83Ile missense NM_001385525.1:c.247G>A NP_001372454.1:p.Val83Ile missense NM_001385526.1:c.247G>A NP_001372455.1:p.Val83Ile missense NM_001385527.1:c.247G>A NP_001372456.1:p.Val83Ile missense NM_001385528.1:c.-427G>A 5 prime UTR NM_001385529.1:c.-427G>A 5 prime UTR NM_001385531.1:c.-427G>A 5 prime UTR NM_001385532.1:c.-427G>A 5 prime UTR NM_001385533.1:c.-427G>A 5 prime UTR NM_001385534.1:c.-427G>A 5 prime UTR NM_001385535.1:c.247G>A NP_001372464.1:p.Val83Ile missense NM_001385537.1:c.-427G>A 5 prime UTR NM_001385538.1:c.-328G>A 5 prime UTR NM_001385539.1:c.-427G>A 5 prime UTR NM_001385540.1:c.-427G>A 5 prime UTR NM_001385541.1:c.-427G>A 5 prime UTR NM_001385542.1:c.-427G>A 5 prime UTR NM_001385543.1:c.-328G>A 5 prime UTR NM_001385544.1:c.-328G>A 5 prime UTR NM_001385545.1:c.-427G>A 5 prime UTR NM_001385546.1:c.-328G>A 5 prime UTR NM_001385547.1:c.-427G>A 5 prime UTR NM_001385548.1:c.-427G>A 5 prime UTR NM_001385549.1:c.-427G>A 5 prime UTR NM_001385550.1:c.-427G>A 5 prime UTR NM_001385551.1:c.-427G>A 5 prime UTR NM_001385552.1:c.-427G>A 5 prime UTR NM_001385553.1:c.-427G>A 5 prime UTR NM_001385554.1:c.-427G>A 5 prime UTR NM_001385557.1:c.-427G>A 5 prime UTR NM_001385559.1:c.-427G>A 5 prime UTR NM_023925.5:c.490G>A NP_076414.2:p.Val164Ile missense NM_032156.5:c.490G>A NP_115532.3:p.Val164Ile missense NR_038177.2:n.1241G>A NR_169636.1:n.271G>A non-coding transcript variant NR_169637.1:n.271G>A non-coding transcript variant NR_169638.1:n.557G>A non-coding transcript variant NR_169639.1:n.557G>A non-coding transcript variant NR_169640.1:n.557G>A non-coding transcript variant NR_169641.1:n.557G>A non-coding transcript variant NR_169643.1:n.341G>A non-coding transcript variant NC_000012.12:g.30741100C>T NC_000012.11:g.30894034C>T NG_029557.2:g.18415G>A - Protein change
- V83I, V164I
- Other names
- -
- Canonical SPDI
- NC_000012.12:30741099:C:T
-
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
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. |
|||
CAPRIN2 | - | - |
GRCh38 GRCh37 |
59 | 87 |
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. |
---|---|---|---|---|
Uncertain significance (1) |
criteria provided, single submitter
|
May 16, 2022 | RCV004106371.1 |
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. |
|
---|---|---|---|---|---|
Uncertain significance
(May 16, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV003575355.2
First in ClinVar: Feb 07, 2023 Last updated: May 01, 2024 |
Comment:
The c.490G>A (p.V164I) alteration is located in exon 3 (coding exon 3) of the CAPRIN2 gene. This alteration results from a G to A substitution … (more)
The c.490G>A (p.V164I) alteration is located in exon 3 (coding exon 3) of the CAPRIN2 gene. This alteration results from a G to A substitution at nucleotide position 490, causing the valine (V) at amino acid position 164 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less)
|
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
HelpThere 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 19, 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.