ClinVar Genomic variation as it relates to human health
NM_020975.6(RET):c.2631del (p.Arg878fs)
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.2631del (p.Arg878fs)
Variation ID: 932072 Accession: VCV000932072.5
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 10q11.21 10: 43120103 (GRCh38) [ NCBI UCSC ] 10: 43615551 (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 Mar 19, 2019 - HGVS
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Nucleotide Protein Molecular
consequenceNM_020975.6:c.2631del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_066124.1:p.Arg878fs frameshift NM_000323.2:c.2631delC NP_000314.1:p.Arg878Glufs frameshift NM_001355216.2:c.1869delC NP_001342145.1:p.Arg624Glufs frameshift NM_001406743.1:c.2631delC NP_001393672.1:p.Arg878Glufs frameshift NM_001406744.1:c.2631delC NP_001393673.1:p.Arg878Glufs frameshift NM_001406759.1:c.2631delC NP_001393688.1:p.Arg878Glufs frameshift NM_001406760.1:c.2631delC NP_001393689.1:p.Arg878Glufs frameshift NM_001406761.1:c.2502delC NP_001393690.1:p.Arg835Glufs frameshift NM_001406762.1:c.2502delC NP_001393691.1:p.Arg835Glufs frameshift NM_001406763.1:c.2496delC NP_001393692.1:p.Arg833Glufs frameshift NM_001406764.1:c.2502delC NP_001393693.1:p.Arg835Glufs frameshift NM_001406765.1:c.2496delC NP_001393694.1:p.Arg833Glufs frameshift NM_001406766.1:c.2343delC NP_001393695.1:p.Arg782Glufs frameshift NM_001406767.1:c.2343delC NP_001393696.1:p.Arg782Glufs frameshift NM_001406768.1:c.2367delC NP_001393697.1:p.Arg790Glufs frameshift NM_001406769.1:c.2235delC NP_001393698.1:p.Arg746Glufs frameshift NM_001406770.1:c.2343delC NP_001393699.1:p.Arg782Glufs frameshift NM_001406771.1:c.2193delC NP_001393700.1:p.Arg732Glufs frameshift NM_001406772.1:c.2235delC NP_001393701.1:p.Arg746Glufs frameshift NM_001406773.1:c.2193delC NP_001393702.1:p.Arg732Glufs frameshift NM_001406774.1:c.2106delC NP_001393703.1:p.Arg703Glufs frameshift NM_001406775.1:c.1905delC NP_001393704.1:p.Arg636Glufs frameshift NM_001406776.1:c.1905delC NP_001393705.1:p.Arg636Glufs frameshift NM_001406777.1:c.1905delC NP_001393706.1:p.Arg636Glufs frameshift NM_001406778.1:c.1905delC NP_001393707.1:p.Arg636Glufs frameshift NM_001406779.1:c.1734delC NP_001393708.1:p.Arg579Glufs frameshift NM_001406780.1:c.1734delC NP_001393709.1:p.Arg579Glufs frameshift NM_001406781.1:c.1734delC NP_001393710.1:p.Arg579Glufs frameshift NM_001406782.1:c.1734delC NP_001393711.1:p.Arg579Glufs frameshift NM_001406783.1:c.1605delC NP_001393712.1:p.Arg536Glufs frameshift NM_001406784.1:c.1641delC NP_001393713.1:p.Arg548Glufs frameshift NM_001406785.1:c.1614delC NP_001393714.1:p.Arg539Glufs frameshift NM_001406786.1:c.1605delC NP_001393715.1:p.Arg536Glufs frameshift NM_001406787.1:c.1599delC NP_001393716.1:p.Arg534Glufs frameshift NM_001406788.1:c.1446delC NP_001393717.1:p.Arg483Glufs frameshift NM_001406789.1:c.1446delC NP_001393718.1:p.Arg483Glufs frameshift NM_001406790.1:c.1446delC NP_001393719.1:p.Arg483Glufs frameshift NM_001406791.1:c.1326delC NP_001393720.1:p.Arg443Glufs frameshift NM_001406792.1:c.1182delC NP_001393721.1:p.Arg395Glufs frameshift NM_001406793.1:c.1182delC NP_001393722.1:p.Arg395Glufs frameshift NM_001406794.1:c.1182delC NP_001393723.1:p.Arg395Glufs frameshift NM_020629.2:c.2631delC NP_065680.1:p.Arg878Glufs frameshift NM_020630.7:c.2631delC NP_065681.1:p.Arg878Glufs frameshift NC_000010.11:g.43120104del NC_000010.10:g.43615552del NG_007489.1:g.48036del LRG_518:g.48036del LRG_518t1:c.2631del LRG_518p1:p.Arg878Glufs LRG_518t2:c.2631del LRG_518p2:p.Arg878Glufs - Protein change
- R624fs, R878fs
- Other names
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- Canonical SPDI
- NC_000010.11:43120102:CC: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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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 | - |
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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Pathogenic (1) |
criteria provided, single submitter
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Mar 19, 2019 | RCV001199205.4 |
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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Pathogenic
(Mar 19, 2019)
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criteria provided, single submitter
Method: clinical testing
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Multiple endocrine neoplasia, type 2b
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV001370227.2
First in ClinVar: Jul 04, 2020 Last updated: Jul 04, 2020 |
Comment:
This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP4.
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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 rs1838178970 ...
HelpRecord last updated Dec 17, 2022
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.