chr10:43610119:G>A Detail (hg19) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,610,119-43,610,119
hg38 chr10:43,114,671-43,114,671 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_020975.4:c.2071G>A NP_066124.1:p.Gly691Ser
NM_020630.4:c.2071G>A NP_065681.1:p.Gly691Ser
Ensemble ENST00000713926.1:c.1807G>A ENST00000713926.1:p.Gly603Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.083
ToMMo:0.078
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.109

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 164761 OMIM
HGNC 9967 HGNC
Ensembl ENSG00000165731 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv39098108 TogoVar
COSMIC COSM1666596 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-01-04 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2020-12-10 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2014-11-19 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Likely benign 2017-04-27 criteria provided, single submitter Renal hypodysplasia/aplasia 1 germline Detail
Likely benign 2017-04-27 criteria provided, single submitter Hirschsprung disease, susceptibility to, 1 germline Detail
Likely benign 2017-04-27 criteria provided, single submitter pheochromocytoma germline Detail
Likely benign 2017-04-27 criteria provided, single submitter multiple endocrine neoplasia germline Detail
Conflicting interpretations of pathogenicity 2019-08-06 criteria provided, conflicting interpretations multiple endocrine neoplasia type 2A germline Detail
Benign 2024-02-05 criteria provided, multiple submitters, no conflicts Multiple endocrine neoplasia, type 2 germline Detail
Benign 2023-07-07 criteria provided, single submitter multiple endocrine neoplasia type 2B germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Cutaneous Melanoma A polymorphism, RETp (G691S), in the intracellular juxtamembrane domain of RET, ... BeFree 22189301 Detail
0.003 pancreatic carcinoma A polymorphism, RETp (G691S), in the intracellular juxtamembrane domain of RET, ... BeFree 22189301 Detail
0.002 pancreatic carcinoma A polymorphism, RETp (G691S), in the intracellular juxtamembrane domain of RET, ... BeFree 22189301 Detail
0.002 Malignant neoplasm of pancreas The G691S RET polymorphism increases glial cell line-derived neurotrophic factor... BeFree 16357163 Detail
0.614 multiple endocrine neoplasia type 2A Polymorphisms G691S/S904S of RET as genetic modifiers of MEN 2A. BeFree 12702567 Detail
0.320 Medullary carcinoma of thyroid The modifier role of RET-G691S polymorphism in hereditary medullary thyroid carc... BeFree 25887804 Detail
0.003 Malignant neoplasm of pancreas A polymorphism, RETp (G691S), in the intracellular juxtamembrane domain of RET, ... BeFree 22189301 Detail
0.305 multiple endocrine neoplasia A polymorphism, RETp (G691S), in the intracellular juxtamembrane domain of RET, ... BeFree 22189301 Detail
0.614 multiple endocrine neoplasia type 2A In 46 cases of sporadic MTCs, we also studied the cosegregation of somatic RET g... BeFree 15240649 Detail
0.320 Medullary carcinoma of thyroid RET exon 11 (G691S) polymorphism is significantly more frequent in sporadic medu... BeFree 15240649 Detail
0.002 Malignant neoplasm of pancreas A polymorphism, RETp (G691S), in the intracellular juxtamembrane domain of RET, ... BeFree 22189301 Detail
0.008 Pancreatic Neoplasm The G691S RET polymorphism was also detected in human pancreatic tumors and repr... BeFree 16357163 Detail
0.002 pancreatic carcinoma The G691S RET polymorphism increases glial cell line-derived neurotrophic factor... BeFree 16357163 Detail
0.179 Papillary thyroid carcinoma Occurrence of medullary thyroid carcinoma, bronchial carcinoid tumor, and papill... BeFree 19411807 Detail
0.320 Medullary carcinoma of thyroid Does the RET variant G691S influence the features of sporadic medullary thyroid ... BeFree 18331611 Detail
0.320 Medullary carcinoma of thyroid The prevalence of the RET polymorphism G691S of exon 11 is higher in patients wi... BeFree 19411807 Detail
<0.001 Cutaneous Melanoma A polymorphism, RETp (G691S), in the intracellular juxtamembrane domain of RET, ... BeFree 22189301 Detail
<0.001 Primary vesicoureteric reflux We find no evidence of any influence of RET SNP rs1799939 on pVUR phenotype. BeFree 19306327 Detail
<0.001 multiple endocrine neoplasia A polymorphism, RETp (G691S), in the intracellular juxtamembrane domain of RET, ... BeFree 22189301 Detail
<0.001 Cutaneous Melanoma Functional RET G691S polymorphism in cutaneous malignant melanoma. BeFree 19561646 Detail
0.320 Medullary carcinoma of thyroid Clinical relevance of RET variants G691S, L769L, S836S and S904S to sporadic med... BeFree 22111543 Detail
0.320 Medullary carcinoma of thyroid The involvement of the RET variant G691S in medullary thyroid carcinoma enlighte... BeFree 23180660 Detail
0.320 Medullary carcinoma of thyroid RET gene analysis showed a p.V804M missense mutation in exon 14, a low- but vari... BeFree 18299477 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) AND not provided ClinVar Detail
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) AND not specified ClinVar Detail
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) AND Renal hypodysplasia/aplasia 1 ClinVar Detail
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) AND Hirschsprung disease, susceptibility to, 1 ClinVar Detail
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) AND Pheochromocytoma ClinVar Detail
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) AND Multiple endocrine neoplasia ClinVar Detail
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) AND Multiple endocrine neoplasia type 2A ClinVar Detail
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) AND Multiple endocrine neoplasia, type 2 ClinVar Detail
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) AND Multiple endocrine neoplasia type 2B ClinVar Detail
A polymorphism, RETp (G691S), in the intracellular juxtamembrane domain of RET, which enhances signa... DisGeNET Detail
A polymorphism, RETp (G691S), in the intracellular juxtamembrane domain of RET, which enhances signa... DisGeNET Detail
A polymorphism, RETp (G691S), in the intracellular juxtamembrane domain of RET, which enhances signa... DisGeNET Detail
The G691S RET polymorphism increases glial cell line-derived neurotrophic factor-induced pancreatic ... DisGeNET Detail
Polymorphisms G691S/S904S of RET as genetic modifiers of MEN 2A. DisGeNET Detail
The modifier role of RET-G691S polymorphism in hereditary medullary thyroid carcinoma: functional ch... DisGeNET Detail
A polymorphism, RETp (G691S), in the intracellular juxtamembrane domain of RET, which enhances signa... DisGeNET Detail
A polymorphism, RETp (G691S), in the intracellular juxtamembrane domain of RET, which enhances signa... DisGeNET Detail
In 46 cases of sporadic MTCs, we also studied the cosegregation of somatic RET gene mutation and G69... DisGeNET Detail
RET exon 11 (G691S) polymorphism is significantly more frequent in sporadic medullary thyroid carcin... DisGeNET Detail
A polymorphism, RETp (G691S), in the intracellular juxtamembrane domain of RET, which enhances signa... DisGeNET Detail
The G691S RET polymorphism was also detected in human pancreatic tumors and represented a somatic mu... DisGeNET Detail
The G691S RET polymorphism increases glial cell line-derived neurotrophic factor-induced pancreatic ... DisGeNET Detail
Occurrence of medullary thyroid carcinoma, bronchial carcinoid tumor, and papillary thyroid carcinom... DisGeNET Detail
Does the RET variant G691S influence the features of sporadic medullary thyroid carcinoma? DisGeNET Detail
The prevalence of the RET polymorphism G691S of exon 11 is higher in patients with medullary thyroid... DisGeNET Detail
A polymorphism, RETp (G691S), in the intracellular juxtamembrane domain of RET, which enhances signa... DisGeNET Detail
We find no evidence of any influence of RET SNP rs1799939 on pVUR phenotype. DisGeNET Detail
A polymorphism, RETp (G691S), in the intracellular juxtamembrane domain of RET, which enhances signa... DisGeNET Detail
Functional RET G691S polymorphism in cutaneous malignant melanoma. DisGeNET Detail
Clinical relevance of RET variants G691S, L769L, S836S and S904S to sporadic medullary thyroid cance... DisGeNET Detail
The involvement of the RET variant G691S in medullary thyroid carcinoma enlightened by a meta-analys... DisGeNET Detail
RET gene analysis showed a p.V804M missense mutation in exon 14, a low- but variably penetrant defec... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1799939 dbSNP
Genome
hg19
Position
chr10:43,610,119-43,610,119
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
183.83
Standard deviation of sample read depth (HGVD)
87.23
Number of reference allele (HGVD)
2219
Number of alternative allele (HGVD)
201
Allele Frequency (HGVD)
0.08305785123966943
Gene Symbol (HGVD)
RET
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1799939
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0776
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1301
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8612
East Asian Allele Counts (ExAC)
942
East Asian Heterozygous Counts (ExAC)
820
East Asian Homozygous Counts (ExAC)
61
East Asian Allele Frequency (ExAC)
0.10938225731537389
Chromosome Counts in All Race (ExAC)
120638
Allele Counts in All Race (ExAC)
24528
Heterozygous Counts in All Race (ExAC)
18848
Homozygous Counts in All Race (ExAC)
2840
Allele Frequency in All Race (ExAC)
0.20331902054079146
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