chr10:43609949:G>A Detail (hg19) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,609,949-43,609,949
hg38 chr10:43,114,501-43,114,501 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_020630.4:c.1901G>A NP_065681.1:p.Cys634Tyr
NM_020975.4:c.1901G>A NP_066124.1:p.Cys634Tyr
Ensemble ENST00000340058.6:c.1901G>A ENST00000340058.6:p.Cys634Tyr
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
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
COSMIC COSM6917079 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
Pathogenic 2020/04/20 ill-defined sites within the digestive system not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-05-21 criteria provided, multiple submitters, no conflicts multiple endocrine neoplasia type 2A germline somatic unknown Detail
Pathogenic 2021-10-06 no assertion criteria provided pheochromocytoma germline maternal Detail
Pathogenic 2022-06-06 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-03-24 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Neoplasm somatic Detail
Likely pathogenic 2016-05-13 no assertion criteria provided Multiple endocrine neoplasia, type 1 somatic Detail
Pathogenic 2023-07-07 criteria provided, multiple submitters, no conflicts multiple endocrine neoplasia type 2B unknown somatic Detail
Likely pathogenic 2016-05-13 no assertion criteria provided multiple endocrine neoplasia type 4 somatic Detail
Likely pathogenic 2016-05-13 no assertion criteria provided Medullary thyroid carcinoma somatic Detail
Pathogenic 2024-01-04 criteria provided, single submitter Multiple endocrine neoplasia, type 2 germline Detail
Pathogenic 2024-03-26 criteria provided, single submitter Hirschsprung disease, susceptibility to, 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.614 multiple endocrine neoplasia type 2A NA CLINVAR Detail
0.126 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.362 familial medullary thyroid carcinoma The results confirmed the successful clinical utility of whole exome sequencing,... BeFree 21655256 Detail
0.522 familial medullary thyroid carcinoma The results confirmed the successful clinical utility of whole exome sequencing,... BeFree 21655256 Detail
0.522 familial medullary thyroid carcinoma NA CLINVAR Detail
0.605 pheochromocytoma NA CLINVAR Detail
0.614 multiple endocrine neoplasia type 2A RET Cys634Arg mutation confers a more aggressive multiple endocrine neoplasia ty... BeFree 25515555 Detail
0.005 hyperparathyroidism These data show a low frequency of hyperparathyroidism in our cases and provide ... BeFree 9820617 Detail
<0.001 Parathyroid Diseases These data show a low frequency of hyperparathyroidism in our cases and provide ... BeFree 9820617 Detail
0.614 multiple endocrine neoplasia type 2A Novel germline mutation in the transmembrane region of RET gene close to Cys634S... BeFree 15592804 Detail
0.320 Medullary carcinoma of thyroid Penetrance of inherited medullary thyroid carcinoma and genotype-phenotype corre... BeFree 12746565 Detail
0.614 multiple endocrine neoplasia type 2A PCR amplification and sequencing of the RET oncogene from the metastatic parathy... BeFree 9497883 Detail
0.614 multiple endocrine neoplasia type 2A Comprehensive analysis of RET gene should be performed in patients with multiple... BeFree 23723040 Detail
0.614 multiple endocrine neoplasia type 2A Penetrance of inherited medullary thyroid carcinoma and genotype-phenotype corre... BeFree 12746565 Detail
0.614 multiple endocrine neoplasia type 2A The mutation found in the RET proto-oncogene responsible for MEN2A in pediatric ... BeFree 24643705 Detail
<0.001 metastatic parathyroid cancer PCR amplification and sequencing of the RET oncogene from the metastatic parathy... BeFree 9497883 Detail
0.605 pheochromocytoma High penetrance of pheochromocytoma associated with the novel C634Y/Y791F double... BeFree 20080836 Detail
0.614 multiple endocrine neoplasia type 2A High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A famili... BeFree 9950371 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) AND Multiple endocrine neoplasia type 2A ClinVar Detail
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) AND Pheochromocytoma ClinVar Detail
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) AND not provided ClinVar Detail
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) AND Neoplasm ClinVar Detail
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) AND Multiple endocrine neoplasia, type 1 ClinVar Detail
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) AND Multiple endocrine neoplasia type 2B ClinVar Detail
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) AND Multiple endocrine neoplasia type 4 ClinVar Detail
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) AND Medullary thyroid carcinoma ClinVar Detail
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) AND Multiple endocrine neoplasia, type 2 ClinVar Detail
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) AND Hirschsprung disease, susceptibility to, 1 ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
The results confirmed the successful clinical utility of whole exome sequencing, and our data sugges... DisGeNET Detail
The results confirmed the successful clinical utility of whole exome sequencing, and our data sugges... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
RET Cys634Arg mutation confers a more aggressive multiple endocrine neoplasia type 2A phenotype than... DisGeNET Detail
These data show a low frequency of hyperparathyroidism in our cases and provide further evidence tha... DisGeNET Detail
These data show a low frequency of hyperparathyroidism in our cases and provide further evidence tha... DisGeNET Detail
Novel germline mutation in the transmembrane region of RET gene close to Cys634Ser mutation associat... DisGeNET Detail
Penetrance of inherited medullary thyroid carcinoma and genotype-phenotype correlation in a large mu... DisGeNET Detail
PCR amplification and sequencing of the RET oncogene from the metastatic parathyroid carcinoma and g... DisGeNET Detail
Comprehensive analysis of RET gene should be performed in patients with multiple endocrine neoplasia... DisGeNET Detail
Penetrance of inherited medullary thyroid carcinoma and genotype-phenotype correlation in a large mu... DisGeNET Detail
The mutation found in the RET proto-oncogene responsible for MEN2A in pediatric patients in the sout... DisGeNET Detail
PCR amplification and sequencing of the RET oncogene from the metastatic parathyroid carcinoma and g... DisGeNET Detail
High penetrance of pheochromocytoma associated with the novel C634Y/Y791F double germline mutation i... DisGeNET Detail
High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain. 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
rs75996173 dbSNP
Genome
hg19
Position
chr10:43,609,949-43,609,949
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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