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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with RET-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.2528_2530dup, results in the insertion of 1 amino acid(s) to the RET protein (p.Glu843_Arg844insGln), but otherwise preserves the integrity of the reading frame.
ClinVar Genomic variation as it relates to human health
NM_020975.6(RET):c.2528_2530dup (p.Glu843_Arg844insGln)
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
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_020975.6(RET):c.2528_2530dup (p.Glu843_Arg844insGln)
Variation ID: 843856 Accession: VCV000843856.9
- Type and length
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Duplication, 3 bp
- Location
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Cytogenetic: 10q11.21 10: 43119665-43119666 (GRCh38) [ NCBI UCSC ] 10: 43615113-43615114 (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 Apr 15, 2020 Feb 20, 2024 Nov 27, 2019 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_020975.6:c.2528_2530dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_066124.1:p.Glu843_Arg844insGln inframe insertion NM_000323.2:c.2528_2530dup NP_000314.1:p.Glu843_Arg844insGln inframe indel NM_001355216.2:c.1766_1768dup NP_001342145.1:p.Glu589_Arg590insGln inframe indel NM_001406743.1:c.2528_2530dup NP_001393672.1:p.Glu843_Arg844insGln inframe indel NM_001406744.1:c.2528_2530dup NP_001393673.1:p.Glu843_Arg844insGln inframe indel NM_001406759.1:c.2528_2530dup NP_001393688.1:p.Glu843_Arg844insGln inframe indel NM_001406760.1:c.2528_2530dup NP_001393689.1:p.Glu843_Arg844insGln inframe indel NM_001406761.1:c.2399_2401dup NP_001393690.1:p.Glu800_Arg801insGln inframe indel NM_001406762.1:c.2399_2401dup NP_001393691.1:p.Glu800_Arg801insGln inframe indel NM_001406763.1:c.2393_2395dup NP_001393692.1:p.Glu798_Arg799insGln inframe indel NM_001406764.1:c.2399_2401dup NP_001393693.1:p.Glu800_Arg801insGln inframe indel NM_001406765.1:c.2393_2395dup NP_001393694.1:p.Glu798_Arg799insGln inframe indel NM_001406766.1:c.2240_2242dup NP_001393695.1:p.Glu747_Arg748insGln inframe indel NM_001406767.1:c.2240_2242dup NP_001393696.1:p.Glu747_Arg748insGln inframe indel NM_001406768.1:c.2264_2266dup NP_001393697.1:p.Glu755_Arg756insGln inframe indel NM_001406769.1:c.2132_2134dup NP_001393698.1:p.Glu711_Arg712insGln inframe indel NM_001406770.1:c.2240_2242dup NP_001393699.1:p.Glu747_Arg748insGln inframe indel NM_001406771.1:c.2090_2092dup NP_001393700.1:p.Glu697_Arg698insGln inframe indel NM_001406772.1:c.2132_2134dup NP_001393701.1:p.Glu711_Arg712insGln inframe indel NM_001406773.1:c.2090_2092dup NP_001393702.1:p.Glu697_Arg698insGln inframe indel NM_001406774.1:c.2003_2005dup NP_001393703.1:p.Glu668_Arg669insGln inframe indel NM_001406775.1:c.1802_1804dup NP_001393704.1:p.Glu601_Arg602insGln inframe indel NM_001406776.1:c.1802_1804dup NP_001393705.1:p.Glu601_Arg602insGln inframe indel NM_001406777.1:c.1802_1804dup NP_001393706.1:p.Glu601_Arg602insGln inframe indel NM_001406778.1:c.1802_1804dup NP_001393707.1:p.Glu601_Arg602insGln inframe indel NM_001406779.1:c.1631_1633dup NP_001393708.1:p.Glu544_Arg545insGln inframe indel NM_001406780.1:c.1631_1633dup NP_001393709.1:p.Glu544_Arg545insGln inframe indel NM_001406781.1:c.1631_1633dup NP_001393710.1:p.Glu544_Arg545insGln inframe indel NM_001406782.1:c.1631_1633dup NP_001393711.1:p.Glu544_Arg545insGln inframe indel NM_001406783.1:c.1502_1504dup NP_001393712.1:p.Glu501_Arg502insGln inframe indel NM_001406784.1:c.1538_1540dup NP_001393713.1:p.Glu513_Arg514insGln inframe indel NM_001406785.1:c.1511_1513dup NP_001393714.1:p.Glu504_Arg505insGln inframe indel NM_001406786.1:c.1502_1504dup NP_001393715.1:p.Glu501_Arg502insGln inframe indel NM_001406787.1:c.1496_1498dup NP_001393716.1:p.Glu499_Arg500insGln inframe indel NM_001406788.1:c.1343_1345dup NP_001393717.1:p.Glu448_Arg449insGln inframe indel NM_001406789.1:c.1343_1345dup NP_001393718.1:p.Glu448_Arg449insGln inframe indel NM_001406790.1:c.1343_1345dup NP_001393719.1:p.Glu448_Arg449insGln inframe indel NM_001406791.1:c.1223_1225dup NP_001393720.1:p.Glu408_Arg409insGln inframe indel NM_001406792.1:c.1079_1081dup NP_001393721.1:p.Glu360_Arg361insGln inframe indel NM_001406793.1:c.1079_1081dup NP_001393722.1:p.Glu360_Arg361insGln inframe indel NM_001406794.1:c.1079_1081dup NP_001393723.1:p.Glu360_Arg361insGln inframe indel NM_020629.2:c.2528_2530dup NP_065680.1:p.Glu843_Arg844insGln inframe indel NM_020630.7:c.2528_2530dup NP_065681.1:p.Glu843_Arg844insGln inframe indel NC_000010.11:g.43119666_43119668dup NC_000010.10:g.43615114_43615116dup NG_007489.1:g.47598_47600dup LRG_518:g.47598_47600dup LRG_518t1:c.2528_2530dup LRG_518p1:p.Glu843_Arg844insGln LRG_518t2:c.2528_2530dup LRG_518p2:p.Glu843_Arg844insGln - Protein change
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- Other names
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- Canonical SPDI
- NC_000010.11:43119665:AGC:AGCAGC
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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. |
|||
| RET | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3595 | 3717 | |
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) |
criteria provided, single submitter
|
Nov 27, 2019 | RCV001046564.10 |
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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Uncertain significance
(Nov 27, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Multiple endocrine neoplasia, type 2
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001210469.5
First in ClinVar: Apr 15, 2020 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with RET-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.2528_2530dup, results in the insertion of 1 amino acid(s) to the RET protein (p.Glu843_Arg844insGln), but otherwise preserves the integrity of the reading frame. (less)
|
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:
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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with RET-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.2528_2530dup, results in the insertion of 1 amino acid(s) to the RET protein (p.Glu843_Arg844insGln), but otherwise preserves the integrity of the reading frame.
Citations for germline classification of this variant
Help| There 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 rs1838161569 ...
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 Sep 29, 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.