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NM_020975.6(RET):c.938G>A (p.Arg313Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Nov 30, 2020)
Last evaluated:
Mar 13, 2019
Accession:
VCV000013932.4
Variation ID:
13932
Description:
single nucleotide variant
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NM_020975.6(RET):c.938G>A (p.Arg313Gln)

Allele ID
28971
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q11.21
Genomic location
10: 43106446 (GRCh38) GRCh38 UCSC
10: 43601894 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_518:g.34378G>A
LRG_518t1:c.938G>A
NC_000010.10:g.43601894G>A
... more HGVS
Protein change
R313Q, R59Q
Other names
-
Canonical SPDI
NC_000010.11:43106445:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00012
Exome Aggregation Consortium (ExAC) 0.00010
The Genome Aggregation Database (gnomAD) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00008
Links
OMIM: 164761.0028
dbSNP: rs77702891
ClinGen: CA009384
UniProtKB: P07949#VAR_009465
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 Mar 13, 2019 RCV000566081.1
Uncertain significance 1 criteria provided, single submitter Dec 7, 2018 RCV000654592.2
Uncertain significance 1 criteria provided, single submitter Jul 27, 2017 RCV000662693.1
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000764894.1
risk factor 1 no assertion criteria provided Jan 1, 1997 RCV000014957.4
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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
(Jul 27, 2017)
criteria provided, single submitter
Method: clinical testing
Multiple endocrine neoplasia, type 2a
Allele origin: unknown
Counsyl
Accession: SCV000785424.2
Submitted: (Jun 20, 2018)
Evidence details
Publications
PubMed (2)
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: SCV000896054.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Dec 07, 2018)
criteria provided, single submitter
Method: clinical testing
Multiple endocrine neoplasia, type 2
Allele origin: germline
Invitae
Accession: SCV000776486.2
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces arginine with glutamine at codon 313 of the RET protein (p.Arg313Gln). The arginine residue is weakly conserved and there is a … (more)
Uncertain significance
(Mar 13, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000674841.3
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (3)
Comment:
The p.R313Q variant (also known as c.938G>A), located in coding exon 5 of the RET gene, results from a G to A substitution at nucleotide … (more)
risk factor
(Jan 01, 1997)
no assertion criteria provided
Method: literature only
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
Allele origin: germline
OMIM
Accession: SCV000035213.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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
RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients. So MT PloS one 2011 PMID: 22174939
Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events. Núñez-Torres R BMC medical genetics 2011 PMID: 21995290
Frequency of RET mutations in long- and short-segment Hirschsprung disease. Seri M Human mutation 1997 PMID: 9090527

Text-mined citations for rs77702891...

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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