ClinVar Genomic variation as it relates to human health
NM_020975.6(RET):c.1897_1899del (p.Leu633del)
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.1897_1899del (p.Leu633del)
Variation ID: 1709666 Accession: VCV001709666.1
- Type and length
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Deletion, 3 bp
- Location
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Cytogenetic: 10q11.21 10: 43114496-43114498 (GRCh38) [ NCBI UCSC ] 10: 43609944-43609946 (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 Oct 15, 2022 Oct 15, 2022 Jul 18, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_020975.6:c.1897_1899del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_066124.1:p.Leu633del inframe deletion NM_000323.2:c.1897_1899delCTG NP_000314.1:p.Leu633del inframe indel NM_001355216.2:c.1135_1137delCTG NP_001342145.1:p.Leu379del inframe indel NM_001406743.1:c.1897_1899delCTG NP_001393672.1:p.Leu633del inframe indel NM_001406744.1:c.1897_1899delCTG NP_001393673.1:p.Leu633del inframe indel NM_001406759.1:c.1897_1899delCTG NP_001393688.1:p.Leu633del inframe indel NM_001406760.1:c.1897_1899delCTG NP_001393689.1:p.Leu633del inframe indel NM_001406761.1:c.1768_1770delCTG NP_001393690.1:p.Leu590del inframe indel NM_001406762.1:c.1768_1770delCTG NP_001393691.1:p.Leu590del inframe indel NM_001406764.1:c.1768_1770delCTG NP_001393693.1:p.Leu590del inframe indel NM_001406766.1:c.1609_1611delCTG NP_001393695.1:p.Leu537del inframe indel NM_001406767.1:c.1609_1611delCTG NP_001393696.1:p.Leu537del inframe indel NM_001406769.1:c.1501_1503delCTG NP_001393698.1:p.Leu501del inframe indel NM_001406770.1:c.1609_1611delCTG NP_001393699.1:p.Leu537del inframe indel NM_001406771.1:c.1459_1461delCTG NP_001393700.1:p.Leu487del inframe indel NM_001406772.1:c.1501_1503delCTG NP_001393701.1:p.Leu501del inframe indel NM_001406773.1:c.1459_1461delCTG NP_001393702.1:p.Leu487del inframe indel NM_001406774.1:c.1372_1374delCTG NP_001393703.1:p.Leu458del inframe indel NM_001406775.1:c.1171_1173delCTG NP_001393704.1:p.Leu391del inframe indel NM_001406776.1:c.1171_1173delCTG NP_001393705.1:p.Leu391del inframe indel NM_001406777.1:c.1171_1173delCTG NP_001393706.1:p.Leu391del inframe indel NM_001406778.1:c.1171_1173delCTG NP_001393707.1:p.Leu391del inframe indel NM_001406779.1:c.1000_1002delCTG NP_001393708.1:p.Leu334del inframe indel NM_001406780.1:c.1000_1002delCTG NP_001393709.1:p.Leu334del inframe indel NM_001406781.1:c.1000_1002delCTG NP_001393710.1:p.Leu334del inframe indel NM_001406782.1:c.1000_1002delCTG NP_001393711.1:p.Leu334del inframe indel NM_001406783.1:c.871_873delCTG NP_001393712.1:p.Leu291del inframe indel NM_001406784.1:c.907_909delCTG NP_001393713.1:p.Leu303del inframe indel NM_001406785.1:c.880_882delCTG NP_001393714.1:p.Leu294del inframe indel NM_001406786.1:c.871_873delCTG NP_001393715.1:p.Leu291del inframe indel NM_001406788.1:c.712_714delCTG NP_001393717.1:p.Leu238del inframe indel NM_001406789.1:c.712_714delCTG NP_001393718.1:p.Leu238del inframe indel NM_001406790.1:c.712_714delCTG NP_001393719.1:p.Leu238del inframe indel NM_001406791.1:c.592_594delCTG NP_001393720.1:p.Leu198del inframe indel NM_001406792.1:c.448_450delCTG NP_001393721.1:p.Leu150del inframe indel NM_001406793.1:c.448_450delCTG NP_001393722.1:p.Leu150del inframe indel NM_001406794.1:c.448_450delCTG NP_001393723.1:p.Leu150del inframe indel NM_020629.2:c.1897_1899delCTG NP_065680.1:p.Leu633del inframe indel NM_020630.7:c.1897_1899delCTG NP_065681.1:p.Leu633del inframe indel NC_000010.11:g.43114497_43114499del NC_000010.10:g.43609945_43609947del NG_007489.1:g.42429_42431del LRG_518:g.42429_42431del LRG_518t1:c.1897_1899del LRG_518p1:p.Leu633del LRG_518t2:c.1897_1899del LRG_518p2:p.Leu633del - Protein change
- L150del, L198del, L238del, L291del, L294del, L303del, L334del, L379del, L391del, L458del, L487del, L501del, L537del, L590del, L633del
- Other names
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- Canonical SPDI
- NC_000010.11:43114495:GCTG: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
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 | ||
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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 |
3522 | 3642 |
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
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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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Jul 18, 2022 | RCV002289481.2 |
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
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
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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
(Jul 18, 2022)
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criteria provided, single submitter
Method: clinical testing
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Multiple endocrine neoplasia type 2A
Affected status: yes
Allele origin:
germline
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MGZ Medical Genetics Center
Accession: SCV002581138.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022
Comment:
ACMG criteria applied: PM2_SUP
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Number of individuals with the variant: 2
Sex: female
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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 May 12, 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.