ClinVar Genomic variation as it relates to human health
NM_020975.6(RET):c.2313C>G (p.Asp771Glu)
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_020975.6(RET):c.2313C>G (p.Asp771Glu)
Variation ID: 930672 Accession: VCV000930672.5
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 10q11.21 10: 43118401 (GRCh38) [ NCBI UCSC ] 10: 43613849 (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 Jul 4, 2020 Jul 4, 2020 Nov 20, 2019 - HGVS
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Nucleotide Protein Molecular
consequenceNM_020975.6:c.2313C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_066124.1:p.Asp771Glu missense NM_000323.2:c.2313C>G NP_000314.1:p.Asp771Glu missense NM_001355216.2:c.1551C>G NP_001342145.1:p.Asp517Glu missense NM_001406743.1:c.2313C>G NP_001393672.1:p.Asp771Glu missense NM_001406744.1:c.2313C>G NP_001393673.1:p.Asp771Glu missense NM_001406759.1:c.2313C>G NP_001393688.1:p.Asp771Glu missense NM_001406760.1:c.2313C>G NP_001393689.1:p.Asp771Glu missense NM_001406761.1:c.2184C>G NP_001393690.1:p.Asp728Glu missense NM_001406762.1:c.2184C>G NP_001393691.1:p.Asp728Glu missense NM_001406763.1:c.2178C>G NP_001393692.1:p.Asp726Glu missense NM_001406764.1:c.2184C>G NP_001393693.1:p.Asp728Glu missense NM_001406765.1:c.2178C>G NP_001393694.1:p.Asp726Glu missense NM_001406766.1:c.2025C>G NP_001393695.1:p.Asp675Glu missense NM_001406767.1:c.2025C>G NP_001393696.1:p.Asp675Glu missense NM_001406768.1:c.2049C>G NP_001393697.1:p.Asp683Glu missense NM_001406769.1:c.1917C>G NP_001393698.1:p.Asp639Glu missense NM_001406770.1:c.2025C>G NP_001393699.1:p.Asp675Glu missense NM_001406771.1:c.1875C>G NP_001393700.1:p.Asp625Glu missense NM_001406772.1:c.1917C>G NP_001393701.1:p.Asp639Glu missense NM_001406773.1:c.1875C>G NP_001393702.1:p.Asp625Glu missense NM_001406774.1:c.1788C>G NP_001393703.1:p.Asp596Glu missense NM_001406775.1:c.1587C>G NP_001393704.1:p.Asp529Glu missense NM_001406776.1:c.1587C>G NP_001393705.1:p.Asp529Glu missense NM_001406777.1:c.1587C>G NP_001393706.1:p.Asp529Glu missense NM_001406778.1:c.1587C>G NP_001393707.1:p.Asp529Glu missense NM_001406779.1:c.1416C>G NP_001393708.1:p.Asp472Glu missense NM_001406780.1:c.1416C>G NP_001393709.1:p.Asp472Glu missense NM_001406781.1:c.1416C>G NP_001393710.1:p.Asp472Glu missense NM_001406782.1:c.1416C>G NP_001393711.1:p.Asp472Glu missense NM_001406783.1:c.1287C>G NP_001393712.1:p.Asp429Glu missense NM_001406784.1:c.1323C>G NP_001393713.1:p.Asp441Glu missense NM_001406785.1:c.1296C>G NP_001393714.1:p.Asp432Glu missense NM_001406786.1:c.1287C>G NP_001393715.1:p.Asp429Glu missense NM_001406787.1:c.1281C>G NP_001393716.1:p.Asp427Glu missense NM_001406788.1:c.1128C>G NP_001393717.1:p.Asp376Glu missense NM_001406789.1:c.1128C>G NP_001393718.1:p.Asp376Glu missense NM_001406790.1:c.1128C>G NP_001393719.1:p.Asp376Glu missense NM_001406791.1:c.1008C>G NP_001393720.1:p.Asp336Glu missense NM_001406792.1:c.864C>G NP_001393721.1:p.Asp288Glu missense NM_001406793.1:c.864C>G NP_001393722.1:p.Asp288Glu missense NM_001406794.1:c.864C>G NP_001393723.1:p.Asp288Glu missense NM_020629.2:c.2313C>G NP_065680.1:p.Asp771Glu missense NM_020630.7:c.2313C>G NP_065681.1:p.Asp771Glu missense NC_000010.11:g.43118401C>G NC_000010.10:g.43613849C>G NG_007489.1:g.46333C>G LRG_518:g.46333C>G LRG_518t1:c.2313C>G LRG_518p1:p.Asp771Glu LRG_518t2:c.2313C>G LRG_518p2:p.Asp771Glu - Protein change
- D517E, D771E, D336E, D675E, D726E, D376E, D432E, D472E, D529E, D639E, D728E, D288E, D427E, D625E, D429E, D441E, D596E, D683E
- Other names
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- Canonical SPDI
- NC_000010.11:43118400:C:G
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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
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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
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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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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RET | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3446 | 3566 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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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
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Uncertain significance (1) |
criteria provided, single submitter
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Nov 20, 2019 | RCV001196508.4 |
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
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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
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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
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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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Uncertain significance
(Nov 20, 2019)
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criteria provided, single submitter
Method: clinical testing
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MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV001367116.2
First in ClinVar: Jul 04, 2020 Last updated: Jul 04, 2020 |
Comment:
This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to … (more)
This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to conclusively support its pathogenic nature. Thus this variant is classified as Uncertain significance - favor pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP3,PP4. (less)
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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
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 rs1838123343 ...
HelpRecord last updated Apr 20, 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.