ClinVar Genomic variation as it relates to human health
NM_020975.6(RET):c.1760_1761delinsAA (p.Arg587Gln)
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.1760_1761delinsAA (p.Arg587Gln)
Variation ID: 2184504 Accession: VCV002184504.2
- Type and length
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Indel, 2 bp
- Location
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Cytogenetic: 10q11.21 10: 43113556-43113557 (GRCh38) [ NCBI UCSC ] 10: 43609004-43609005 (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 Feb 8, 2023 Feb 20, 2024 Sep 21, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_020975.6:c.1760_1761delinsAA MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_066124.1:p.Arg587Gln missense NM_000323.2:c.1760_1761delGGinsAA NP_000314.1:p.Arg587Gln missense NM_001355216.2:c.998_999delGGinsAA NP_001342145.1:p.Arg333Gln missense NM_001406743.1:c.1760_1761delGGinsAA NP_001393672.1:p.Arg587Gln missense NM_001406744.1:c.1760_1761delGGinsAA NP_001393673.1:p.Arg587Gln missense NM_001406759.1:c.1760_1761delGGinsAA NP_001393688.1:p.Arg587Gln missense NM_001406760.1:c.1760_1761delGGinsAA NP_001393689.1:p.Arg587Gln missense NM_001406761.1:c.1631_1632delGGinsAA NP_001393690.1:p.Arg544Gln missense NM_001406762.1:c.1631_1632delGGinsAA NP_001393691.1:p.Arg544Gln missense NM_001406763.1:c.1760_1761delGGinsAA NP_001393692.1:p.Arg587Gln missense NM_001406764.1:c.1631_1632delGGinsAA NP_001393693.1:p.Arg544Gln missense NM_001406765.1:c.1760_1761delGGinsAA NP_001393694.1:p.Arg587Gln missense NM_001406766.1:c.1472_1473delGGinsAA NP_001393695.1:p.Arg491Gln missense NM_001406767.1:c.1472_1473delGGinsAA NP_001393696.1:p.Arg491Gln missense NM_001406768.1:c.1631_1632delGGinsAA NP_001393697.1:p.Arg544Gln missense NM_001406769.1:c.1364_1365delGGinsAA NP_001393698.1:p.Arg455Gln missense NM_001406770.1:c.1472_1473delGGinsAA NP_001393699.1:p.Arg491Gln missense NM_001406771.1:c.1322_1323delGGinsAA NP_001393700.1:p.Arg441Gln missense NM_001406772.1:c.1364_1365delGGinsAA NP_001393701.1:p.Arg455Gln missense NM_001406773.1:c.1322_1323delGGinsAA NP_001393702.1:p.Arg441Gln missense NM_001406774.1:c.1235_1236delGGinsAA NP_001393703.1:p.Arg412Gln missense NM_001406775.1:c.1034_1035delGGinsAA NP_001393704.1:p.Arg345Gln missense NM_001406776.1:c.1034_1035delGGinsAA NP_001393705.1:p.Arg345Gln missense NM_001406777.1:c.1034_1035delGGinsAA NP_001393706.1:p.Arg345Gln missense NM_001406778.1:c.1034_1035delGGinsAA NP_001393707.1:p.Arg345Gln missense NM_001406779.1:c.863_864delGGinsAA NP_001393708.1:p.Arg288Gln missense NM_001406780.1:c.863_864delGGinsAA NP_001393709.1:p.Arg288Gln missense NM_001406781.1:c.863_864delGGinsAA NP_001393710.1:p.Arg288Gln missense NM_001406782.1:c.863_864delGGinsAA NP_001393711.1:p.Arg288Gln missense NM_001406783.1:c.734_735delGGinsAA NP_001393712.1:p.Arg245Gln missense NM_001406784.1:c.770_771delGGinsAA NP_001393713.1:p.Arg257Gln missense NM_001406786.1:c.734_735delGGinsAA NP_001393715.1:p.Arg245Gln missense NM_001406787.1:c.863_864delGGinsAA NP_001393716.1:p.Arg288Gln missense NM_001406788.1:c.575_576delGGinsAA NP_001393717.1:p.Arg192Gln missense NM_001406789.1:c.575_576delGGinsAA NP_001393718.1:p.Arg192Gln missense NM_001406790.1:c.575_576delGGinsAA NP_001393719.1:p.Arg192Gln missense NM_001406792.1:c.311_312delGGinsAA NP_001393721.1:p.Arg104Gln missense NM_001406793.1:c.311_312delGGinsAA NP_001393722.1:p.Arg104Gln missense NM_001406794.1:c.311_312delGGinsAA NP_001393723.1:p.Arg104Gln missense NM_020629.2:c.1760_1761delGGinsAA NP_065680.1:p.Arg587Gln missense NM_020630.7:c.1760_1761delGGinsAA NP_065681.1:p.Arg587Gln missense NC_000010.11:g.43113556_43113557delinsAA NC_000010.10:g.43609004_43609005delinsAA NG_007489.1:g.41488_41489delinsAA LRG_518:g.41488_41489delinsAA LRG_518t1:c.1760_1761delGGinsAA LRG_518p1:p.Arg587Gln LRG_518t2:c.1760_1761delGGinsAA LRG_518p2:p.Arg587Gln - Protein change
- R104Q, R288Q, R192Q, R245Q, R257Q, R412Q, R441Q, R455Q, R587Q, R333Q, R345Q, R491Q, R544Q
- Other names
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- Canonical SPDI
- NC_000010.11:43113555:GG:AA
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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 |
3382 | 3500 |
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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Sep 21, 2022 | RCV002603333.2 |
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
(Sep 21, 2022)
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criteria provided, single submitter
Method: clinical testing
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Multiple endocrine neoplasia, type 2
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV003500943.2
First in ClinVar: Feb 07, 2023 Last updated: Feb 20, 2024 |
Comment:
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant … (more)
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals affected with RET-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 587 of the RET protein (p.Arg587Gln). (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 this variant ...
HelpRecord last updated Feb 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.