ClinVar Genomic variation as it relates to human health
NM_020975.6(RET):c.2_7dup (p.Ala2_Lys3insMetAla)
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.2_7dup (p.Ala2_Lys3insMetAla)
Variation ID: 2447524 Accession: VCV002447524.2
- Type and length
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Duplication, 6 bp
- Location
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Cytogenetic: 10q11.21 10: 43077254-43077255 (GRCh38) [ NCBI UCSC ] 10: 43572702-43572703 (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, 2023 Sep 3, 2023 Jan 5, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_020975.6:c.2_7dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_066124.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_000323.2:c.2_7dup NP_000314.1:p.Ala2_Lys3insMetAla inframe indel NM_001406743.1:c.2_7dup NP_001393672.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406744.1:c.2_7dup NP_001393673.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406759.1:c.2_7dup NP_001393688.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406760.1:c.2_7dup NP_001393689.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406761.1:c.2_7dup NP_001393690.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406762.1:c.2_7dup NP_001393691.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406763.1:c.2_7dup NP_001393692.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406764.1:c.2_7dup NP_001393693.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406765.1:c.2_7dup NP_001393694.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406766.1:c.2_7dup NP_001393695.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406767.1:c.2_7dup NP_001393696.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406768.1:c.2_7dup NP_001393697.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406769.1:c.2_7dup NP_001393698.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406770.1:c.2_7dup NP_001393699.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406771.1:c.2_7dup NP_001393700.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406772.1:c.2_7dup NP_001393701.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406773.1:c.2_7dup NP_001393702.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406774.1:c.2_7dup NP_001393703.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406775.1:c.2_7dup NP_001393704.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406776.1:c.2_7dup NP_001393705.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406777.1:c.2_7dup NP_001393706.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406778.1:c.2_7dup NP_001393707.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406779.1:c.2_7dup NP_001393708.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406780.1:c.2_7dup NP_001393709.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406781.1:c.2_7dup NP_001393710.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406782.1:c.2_7dup NP_001393711.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406783.1:c.2_7dup NP_001393712.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406784.1:c.2_7dup NP_001393713.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406785.1:c.2_7dup NP_001393714.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406786.1:c.2_7dup NP_001393715.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406787.1:c.2_7dup NP_001393716.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406788.1:c.2_7dup NP_001393717.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406789.1:c.2_7dup NP_001393718.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406790.1:c.2_7dup NP_001393719.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406791.1:c.2_7dup NP_001393720.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406792.1:c.2_7dup NP_001393721.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406793.1:c.2_7dup NP_001393722.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_001406794.1:c.2_7dup NP_001393723.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_020629.2:c.2_7dup NP_065680.1:p.Ala2_Lys3insMetAla inframe indel NM_020630.7:c.2_7dup NP_065681.1:p.Ala2_Lys3insMetAla inframe insertion initiator codon variant NM_020975.4:c.2_7dupTGGCGA inframe indel NC_000010.11:g.43077260_43077265dup NC_000010.10:g.43572708_43572713dup NG_007489.1:g.5192_5197dup NG_045003.1:g.4447_4452dup LRG_518:g.5192_5197dup LRG_518t1:c.2_7dup LRG_518p1:p.Ala2_Lys3insMetAla LRG_518t2:c.2_7dup LRG_518p2:p.Ala2_Lys3insMetAla - Protein change
- Other names
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- Canonical SPDI
- NC_000010.11:43077254:GGCGATGGCGA:GGCGATGGCGATGGCGA
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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 |
3381 | 3502 | |
LOC106736614 | - | - | - | GRCh38 | - | 71 |
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
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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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Likely benign (1) |
criteria provided, single submitter
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Jan 5, 2023 | RCV003176489.1 |
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
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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Likely benign
(Jan 05, 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: SCV003858483.2
First in ClinVar: Apr 15, 2023 Last updated: Sep 03, 2023 |
Comment:
This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, … (more)
This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (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 Dec 25, 2023
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.