Converted during submission to Uncertain significance.
ClinVar Genomic variation as it relates to human health
NM_001385562.1(ARPP21):c.1355G>T (p.Gly452Val)
Germline
Classification
Help
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.
(1)
Help
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.
Uncertain significance
1
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_001385562.1(ARPP21):c.1355G>T (p.Gly452Val)
Variation ID: 161701 Accession: VCV000161701.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 3p22.3 3: 35729432 (GRCh38) [ NCBI UCSC ] 3: 35770924 (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 Dec 15, 2014 Dec 15, 2014 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001385562.1:c.1355G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001372491.1:p.Gly452Val missense NM_001267617.2:c.1193G>T NP_001254546.1:p.Gly398Val missense NM_001267619.2:c.1253G>T NP_001254548.1:p.Gly418Val missense NM_001385484.1:c.1253G>T NP_001372413.1:p.Gly418Val missense NM_001385485.1:c.1253G>T NP_001372414.1:p.Gly418Val missense NM_001385486.1:c.1253G>T NP_001372415.1:p.Gly418Val missense NM_001385487.1:c.1253G>T NP_001372416.1:p.Gly418Val missense NM_001385488.1:c.1193G>T NP_001372417.1:p.Gly398Val missense NM_001385489.1:c.1193G>T NP_001372418.1:p.Gly398Val missense NM_001385490.1:c.1355G>T NP_001372419.1:p.Gly452Val missense NM_001385491.1:c.1049G>T NP_001372420.1:p.Gly350Val missense NM_001385492.1:c.1193G>T NP_001372421.1:p.Gly398Val missense NM_001385495.1:c.1352G>T NP_001372424.1:p.Gly451Val missense NM_001385496.1:c.1175G>T NP_001372425.1:p.Gly392Val missense NM_001385497.1:c.1193G>T NP_001372426.1:p.Gly398Val missense NM_001385517.1:c.914G>T NP_001372446.1:p.Gly305Val missense NM_001385536.1:c.1250G>T NP_001372465.1:p.Gly417Val missense NM_001385556.1:c.1184G>T NP_001372485.1:p.Gly395Val missense NM_001385558.1:c.1295G>T NP_001372487.1:p.Gly432Val missense NM_001385563.1:c.1196G>T NP_001372492.1:p.Gly399Val missense NM_001385564.1:c.1253G>T NP_001372493.1:p.Gly418Val missense NM_001385565.1:c.1193G>T NP_001372494.1:p.Gly398Val missense NM_001385566.1:c.1187G>T NP_001372495.1:p.Gly396Val missense NM_001385567.1:c.1295G>T NP_001372496.1:p.Gly432Val missense NM_001385573.1:c.1196G>T NP_001372502.1:p.Gly399Val missense NM_001385574.1:c.1193G>T NP_001372503.1:p.Gly398Val missense NM_001385576.1:c.1193G>T NP_001372505.1:p.Gly398Val missense NM_001385577.1:c.1193G>T NP_001372506.1:p.Gly398Val missense NM_001385578.1:c.1193G>T NP_001372507.1:p.Gly398Val missense NM_001385580.1:c.1193G>T NP_001372509.1:p.Gly398Val missense NM_001385581.1:c.1193G>T NP_001372510.1:p.Gly398Val missense NM_001385582.1:c.1196G>T NP_001372511.1:p.Gly399Val missense NM_001385584.1:c.1196G>T NP_001372513.1:p.Gly399Val missense NM_001385585.1:c.1250G>T NP_001372514.1:p.Gly417Val missense NM_001385587.1:c.1253G>T NP_001372516.1:p.Gly418Val missense NM_001385588.2:c.1253G>T NP_001372517.1:p.Gly418Val missense NM_001385589.1:c.1295G>T NP_001372518.1:p.Gly432Val missense NM_001385590.1:c.1295G>T NP_001372519.1:p.Gly432Val missense NM_001385591.1:c.1352G>T NP_001372520.1:p.Gly451Val missense NM_001385592.1:c.1355G>T NP_001372521.1:p.Gly452Val missense NM_001385593.1:c.1355G>T NP_001372522.1:p.Gly452Val missense NM_001385594.1:c.1355G>T NP_001372523.1:p.Gly452Val missense NM_001385595.1:c.1358G>T NP_001372524.1:p.Gly453Val missense NM_016300.5:c.1355G>T NP_057384.2:p.Gly452Val missense NR_169632.1:n.2204G>T non-coding transcript variant NR_169633.1:n.2381G>T non-coding transcript variant NR_169635.1:n.1902G>T non-coding transcript variant NR_169644.1:n.2279G>T non-coding transcript variant NR_169645.1:n.2173G>T non-coding transcript variant NR_169646.1:n.1729G>T non-coding transcript variant NR_169647.1:n.2230G>T non-coding transcript variant NR_170705.1:n.2532G>T non-coding transcript variant NR_170706.1:n.1766G>T non-coding transcript variant NR_170707.1:n.2272G>T non-coding transcript variant NC_000003.12:g.35729432G>T NC_000003.11:g.35770924G>T NG_050660.1:g.95259G>T - Protein change
- G452V, G398V, G418V, G305V, G350V, G392V, G395V, G396V, G399V, G417V, G432V, G451V, G453V
- Other names
- -
- Canonical SPDI
- NC_000003.12:35729431:G:T
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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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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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- 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. |
|||
| ARPP21 | - | - |
GRCh38 GRCh37 |
50 | 66 | |
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) |
no assertion criteria provided
|
- | RCV000149237.3 |
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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Unknown
(-)
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no assertion criteria provided
Method: not provided
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Malignant tumor of prostate
Affected status: not provided
Allele origin:
somatic
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Science for Life laboratory, Karolinska Institutet
Accession: SCV000088879.1
First in ClinVar: Dec 15, 2014 Last updated: Dec 15, 2014
Comment:
TumorID:SWE-19
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Comment:
Converted during submission to Uncertain significance.
|
Comment:
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. |
Comment:
Converted during submission to Uncertain significance.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| The mitochondrial and autosomal mutation landscapes of prostate cancer. | Lindberg J | European urology | 2013 | PMID: 23265383 |
Text-mined citations for rs193920911 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Jun 17, 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.