ClinVar Genomic variation as it relates to human health
NM_020975.6(RET):c.2600A>C (p.Glu867Ala)
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.2600A>C (p.Glu867Ala)
Variation ID: 3227535 Accession: VCV003227535.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 10q11.21 10: 43119738 (GRCh38) [ NCBI UCSC ] 10: 43615186 (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 May 1, 2024 May 1, 2024 Dec 20, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_020975.6:c.2600A>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_066124.1:p.Glu867Ala missense NM_000323.2:c.2600A>C NP_000314.1:p.Glu867Ala missense NM_001355216.2:c.1838A>C NP_001342145.1:p.Glu613Ala missense NM_001406743.1:c.2600A>C NP_001393672.1:p.Glu867Ala missense NM_001406744.1:c.2600A>C NP_001393673.1:p.Glu867Ala missense NM_001406759.1:c.2600A>C NP_001393688.1:p.Glu867Ala missense NM_001406760.1:c.2600A>C NP_001393689.1:p.Glu867Ala missense NM_001406761.1:c.2471A>C NP_001393690.1:p.Glu824Ala missense NM_001406762.1:c.2471A>C NP_001393691.1:p.Glu824Ala missense NM_001406763.1:c.2465A>C NP_001393692.1:p.Glu822Ala missense NM_001406764.1:c.2471A>C NP_001393693.1:p.Glu824Ala missense NM_001406765.1:c.2465A>C NP_001393694.1:p.Glu822Ala missense NM_001406766.1:c.2312A>C NP_001393695.1:p.Glu771Ala missense NM_001406767.1:c.2312A>C NP_001393696.1:p.Glu771Ala missense NM_001406768.1:c.2336A>C NP_001393697.1:p.Glu779Ala missense NM_001406769.1:c.2204A>C NP_001393698.1:p.Glu735Ala missense NM_001406770.1:c.2312A>C NP_001393699.1:p.Glu771Ala missense NM_001406771.1:c.2162A>C NP_001393700.1:p.Glu721Ala missense NM_001406772.1:c.2204A>C NP_001393701.1:p.Glu735Ala missense NM_001406773.1:c.2162A>C NP_001393702.1:p.Glu721Ala missense NM_001406774.1:c.2075A>C NP_001393703.1:p.Glu692Ala missense NM_001406775.1:c.1874A>C NP_001393704.1:p.Glu625Ala missense NM_001406776.1:c.1874A>C NP_001393705.1:p.Glu625Ala missense NM_001406777.1:c.1874A>C NP_001393706.1:p.Glu625Ala missense NM_001406778.1:c.1874A>C NP_001393707.1:p.Glu625Ala missense NM_001406779.1:c.1703A>C NP_001393708.1:p.Glu568Ala missense NM_001406780.1:c.1703A>C NP_001393709.1:p.Glu568Ala missense NM_001406781.1:c.1703A>C NP_001393710.1:p.Glu568Ala missense NM_001406782.1:c.1703A>C NP_001393711.1:p.Glu568Ala missense NM_001406783.1:c.1574A>C NP_001393712.1:p.Glu525Ala missense NM_001406784.1:c.1610A>C NP_001393713.1:p.Glu537Ala missense NM_001406785.1:c.1583A>C NP_001393714.1:p.Glu528Ala missense NM_001406786.1:c.1574A>C NP_001393715.1:p.Glu525Ala missense NM_001406787.1:c.1568A>C NP_001393716.1:p.Glu523Ala missense NM_001406788.1:c.1415A>C NP_001393717.1:p.Glu472Ala missense NM_001406789.1:c.1415A>C NP_001393718.1:p.Glu472Ala missense NM_001406790.1:c.1415A>C NP_001393719.1:p.Glu472Ala missense NM_001406791.1:c.1295A>C NP_001393720.1:p.Glu432Ala missense NM_001406792.1:c.1151A>C NP_001393721.1:p.Glu384Ala missense NM_001406793.1:c.1151A>C NP_001393722.1:p.Glu384Ala missense NM_001406794.1:c.1151A>C NP_001393723.1:p.Glu384Ala missense NM_020629.2:c.2600A>C NP_065680.1:p.Glu867Ala missense NM_020630.7:c.2600A>C NP_065681.1:p.Glu867Ala missense NC_000010.11:g.43119738A>C NC_000010.10:g.43615186A>C NG_007489.1:g.47670A>C LRG_518:g.47670A>C LRG_518t1:c.2600A>C LRG_518p1:p.Glu867Ala LRG_518t2:c.2600A>C LRG_518p2:p.Glu867Ala - Protein change
- E384A, E432A, E472A, E523A, E525A, E528A, E537A, E568A, E613A, E625A, E692A, E721A, E735A, E771A, E779A, E822A, E824A, E867A
- Other names
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- Canonical SPDI
- NC_000010.11:43119737:A: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 |
3523 | 3643 |
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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Dec 20, 2023 | RCV004524653.1 |
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
(Dec 20, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV005028371.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
The p.E867A variant (also known as c.2600A>C), located in coding exon 14 of the RET gene, results from an A to C substitution at nucleotide … (more)
The p.E867A variant (also known as c.2600A>C), located in coding exon 14 of the RET gene, results from an A to C substitution at nucleotide position 2600. The glutamic acid at codon 867 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (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 May 08, 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.