ClinVar Genomic variation as it relates to human health
NM_020975.6(RET):c.277G>A (p.Gly93Ser)
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.277G>A (p.Gly93Ser)
Variation ID: 3065760 Accession: VCV003065760.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 10q11.21 10: 43100662 (GRCh38) [ NCBI UCSC ] 10: 43596110 (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 6, 2024 Apr 6, 2024 Mar 29, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_020975.6:c.277G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_066124.1:p.Gly93Ser missense NM_000323.2:c.277G>A NP_000314.1:p.Gly93Ser missense NM_001406743.1:c.277G>A NP_001393672.1:p.Gly93Ser missense NM_001406744.1:c.277G>A NP_001393673.1:p.Gly93Ser missense NM_001406759.1:c.277G>A NP_001393688.1:p.Gly93Ser missense NM_001406760.1:c.277G>A NP_001393689.1:p.Gly93Ser missense NM_001406761.1:c.277G>A NP_001393690.1:p.Gly93Ser missense NM_001406762.1:c.277G>A NP_001393691.1:p.Gly93Ser missense NM_001406763.1:c.277G>A NP_001393692.1:p.Gly93Ser missense NM_001406764.1:c.277G>A NP_001393693.1:p.Gly93Ser missense NM_001406765.1:c.277G>A NP_001393694.1:p.Gly93Ser missense NM_001406766.1:c.277G>A NP_001393695.1:p.Gly93Ser missense NM_001406767.1:c.277G>A NP_001393696.1:p.Gly93Ser missense NM_001406768.1:c.277G>A NP_001393697.1:p.Gly93Ser missense NM_001406769.1:c.277G>A NP_001393698.1:p.Gly93Ser missense NM_001406770.1:c.277G>A NP_001393699.1:p.Gly93Ser missense NM_001406771.1:c.277G>A NP_001393700.1:p.Gly93Ser missense NM_001406772.1:c.277G>A NP_001393701.1:p.Gly93Ser missense NM_001406773.1:c.277G>A NP_001393702.1:p.Gly93Ser missense NM_001406774.1:c.277G>A NP_001393703.1:p.Gly93Ser missense NM_001406775.1:c.277G>A NP_001393704.1:p.Gly93Ser missense NM_001406776.1:c.277G>A NP_001393705.1:p.Gly93Ser missense NM_001406777.1:c.277G>A NP_001393706.1:p.Gly93Ser missense NM_001406778.1:c.277G>A NP_001393707.1:p.Gly93Ser missense NM_001406779.1:c.277G>A NP_001393708.1:p.Gly93Ser missense NM_001406780.1:c.277G>A NP_001393709.1:p.Gly93Ser missense NM_001406781.1:c.277G>A NP_001393710.1:p.Gly93Ser missense NM_001406782.1:c.277G>A NP_001393711.1:p.Gly93Ser missense NM_001406783.1:c.277G>A NP_001393712.1:p.Gly93Ser missense NM_001406784.1:c.74-8369G>A intron variant NM_001406785.1:c.277G>A NP_001393714.1:p.Gly93Ser missense NM_001406786.1:c.277G>A NP_001393715.1:p.Gly93Ser missense NM_001406787.1:c.277G>A NP_001393716.1:p.Gly93Ser missense NM_001406788.1:c.277G>A NP_001393717.1:p.Gly93Ser missense NM_001406789.1:c.277G>A NP_001393718.1:p.Gly93Ser missense NM_001406790.1:c.277G>A NP_001393719.1:p.Gly93Ser missense NM_001406791.1:c.277G>A NP_001393720.1:p.Gly93Ser missense NM_001406792.1:c.74-11437G>A intron variant NM_001406793.1:c.74-11437G>A intron variant NM_001406794.1:c.74-11437G>A intron variant NM_020629.2:c.277G>A NP_065680.1:p.Gly93Ser missense NM_020630.7:c.277G>A NP_065681.1:p.Gly93Ser missense NC_000010.11:g.43100662G>A NC_000010.10:g.43596110G>A NG_007489.1:g.28594G>A LRG_518:g.28594G>A LRG_518t1:c.277G>A LRG_518p1:p.Gly93Ser LRG_518t2:c.277G>A LRG_518p2:p.Gly93Ser - Protein change
- G93S
- Other names
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- Canonical SPDI
- NC_000010.11:43100661:G:A
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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 | ||
|---|---|---|---|---|---|---|
| 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 |
3594 | 3716 | |
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
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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 pathogenic (1) |
criteria provided, single submitter
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Mar 29, 2024 | RCV003990837.2 |
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
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 pathogenic
(Mar 29, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hirschsprung disease, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
Accession: SCV004807838.1
First in ClinVar: Apr 06, 2024 Last updated: Apr 06, 2024 |
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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
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 this variant ...
HelpRecord last updated Aug 04, 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.