ClinVar Genomic variation as it relates to human health
NM_020975.6(RET):c.1921G>C (p.Ala641Pro)
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.1921G>C (p.Ala641Pro)
Variation ID: 1698934 Accession: VCV001698934.3
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 10q11.21 10: 43114521 (GRCh38) [ NCBI UCSC ] 10: 43609969 (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 Aug 8, 2022 Jan 6, 2024 Nov 15, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_020975.6:c.1921G>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_066124.1:p.Ala641Pro missense NM_000323.2:c.1921G>C NP_000314.1:p.Ala641Pro missense NM_001355216.2:c.1159G>C NP_001342145.1:p.Ala387Pro missense NM_001406743.1:c.1921G>C NP_001393672.1:p.Ala641Pro missense NM_001406744.1:c.1921G>C NP_001393673.1:p.Ala641Pro missense NM_001406759.1:c.1921G>C NP_001393688.1:p.Ala641Pro missense NM_001406760.1:c.1921G>C NP_001393689.1:p.Ala641Pro missense NM_001406761.1:c.1792G>C NP_001393690.1:p.Ala598Pro missense NM_001406762.1:c.1792G>C NP_001393691.1:p.Ala598Pro missense NM_001406764.1:c.1792G>C NP_001393693.1:p.Ala598Pro missense NM_001406766.1:c.1633G>C NP_001393695.1:p.Ala545Pro missense NM_001406767.1:c.1633G>C NP_001393696.1:p.Ala545Pro missense NM_001406769.1:c.1525G>C NP_001393698.1:p.Ala509Pro missense NM_001406770.1:c.1633G>C NP_001393699.1:p.Ala545Pro missense NM_001406771.1:c.1483G>C NP_001393700.1:p.Ala495Pro missense NM_001406772.1:c.1525G>C NP_001393701.1:p.Ala509Pro missense NM_001406773.1:c.1483G>C NP_001393702.1:p.Ala495Pro missense NM_001406774.1:c.1396G>C NP_001393703.1:p.Ala466Pro missense NM_001406775.1:c.1195G>C NP_001393704.1:p.Ala399Pro missense NM_001406776.1:c.1195G>C NP_001393705.1:p.Ala399Pro missense NM_001406777.1:c.1195G>C NP_001393706.1:p.Ala399Pro missense NM_001406778.1:c.1195G>C NP_001393707.1:p.Ala399Pro missense NM_001406779.1:c.1024G>C NP_001393708.1:p.Ala342Pro missense NM_001406780.1:c.1024G>C NP_001393709.1:p.Ala342Pro missense NM_001406781.1:c.1024G>C NP_001393710.1:p.Ala342Pro missense NM_001406782.1:c.1024G>C NP_001393711.1:p.Ala342Pro missense NM_001406783.1:c.895G>C NP_001393712.1:p.Ala299Pro missense NM_001406784.1:c.931G>C NP_001393713.1:p.Ala311Pro missense NM_001406785.1:c.904G>C NP_001393714.1:p.Ala302Pro missense NM_001406786.1:c.895G>C NP_001393715.1:p.Ala299Pro missense NM_001406788.1:c.736G>C NP_001393717.1:p.Ala246Pro missense NM_001406789.1:c.736G>C NP_001393718.1:p.Ala246Pro missense NM_001406790.1:c.736G>C NP_001393719.1:p.Ala246Pro missense NM_001406791.1:c.616G>C NP_001393720.1:p.Ala206Pro missense NM_001406792.1:c.472G>C NP_001393721.1:p.Ala158Pro missense NM_001406793.1:c.472G>C NP_001393722.1:p.Ala158Pro missense NM_001406794.1:c.472G>C NP_001393723.1:p.Ala158Pro missense NM_020629.2:c.1921G>C NP_065680.1:p.Ala641Pro missense NM_020630.7:c.1921G>C NP_065681.1:p.Ala641Pro missense NC_000010.11:g.43114521G>C NC_000010.10:g.43609969G>C NG_007489.1:g.42453G>C LRG_518:g.42453G>C LRG_518t1:c.1921G>C LRG_518p1:p.Ala641Pro LRG_518t2:c.1921G>C LRG_518p2:p.Ala641Pro - Protein change
- A387P, A641P, A158P, A302P, A246P, A466P, A509P, A299P, A342P, A545P, A598P, A206P, A311P, A399P, A495P
- Other names
- p.Ala641Pro
- Canonical SPDI
- NC_000010.11:43114520:G: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 |
3446 | 3566 |
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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Jan 15, 2021 | RCV002272791.2 | |
Uncertain significance (1) |
criteria provided, single submitter
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Nov 15, 2022 | RCV003481269.1 |
Submissions - Germline
Classification
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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
(Jan 15, 2021)
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criteria provided, single submitter
Method: clinical testing
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Familial medullary thyroid carcinoma
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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Genetics and Molecular Pathology, SA Pathology
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002557007.2
First in ClinVar: Aug 08, 2022 Last updated: Dec 17, 2022 |
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Uncertain significance
(Nov 15, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not provided
Affected status: unknown
Allele origin:
germline
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Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV004225229.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
Comment:
PP3, PM2
Number of individuals with the variant: 1
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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 rs377767411 ...
HelpRecord last updated Apr 20, 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.