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NM_020975.6(RET):c.2454G>A (p.Glu818=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 10, 2020
Accession:
VCV000194426.2
Variation ID:
194426
Description:
single nucleotide variant
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NM_020975.6(RET):c.2454G>A (p.Glu818=)

Allele ID
191589
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q11.21
Genomic location
10: 43119592 (GRCh38) GRCh38 UCSC
10: 43615040 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.43615040G>A
LRG_518:g.47524G>A
NC_000010.11:g.43119592G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:43119591:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00000
Links
ClinGen: CA008802
dbSNP: rs794727131
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 23, 2017 RCV000174792.1
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000764901.1
Likely benign 1 criteria provided, single submitter Aug 10, 2020 RCV001437744.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RET Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1738 1809

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 23, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000226160.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Aug 10, 2020)
criteria provided, single submitter
Method: clinical testing
Multiple endocrine neoplasia, type 2
Allele origin: germline
Invitae
Accession: SCV001640607.1
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Hirschsprung disease 1
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia, type 2b
Pheochromocytoma
Multiple endocrine neoplasia, type 2a
Congenital central hypoventilation
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000896061.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30

Functional evidence

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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 this variant

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Title Author Journal Year Link
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=RET - - - -

Text-mined citations for rs794727131...

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These 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 Nov 27, 2021