chr10:43114500:T>C Detail (hg38) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,609,948-43,609,948 View the variant detail on this assembly version.
hg38 chr10:43,114,500-43,114,500

HGVS

Type Transcript Protein
RefSeq NM_020630.4:c.1900T>C NP_065681.1:p.Cys634Arg
NM_020975.4:c.1900T>C NP_066124.1:p.Cys634Arg
Ensemble ENST00000340058.6:c.1900T>C ENST00000340058.6:p.Cys634Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 COSM6911797 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1994-01-01 no assertion criteria provided multiple endocrine neoplasia type 2A germline Detail
Pathogenic 2023-09-20 criteria provided, multiple submitters, no conflicts multiple endocrine neoplasia type 2A germline somatic unknown Detail
Pathogenic 2002-12-01 no assertion criteria provided pheochromocytoma germline Detail
Pathogenic 2023-08-28 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2021-11-16 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2016-05-13 no assertion criteria provided multiple endocrine neoplasia type 4 somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Medullary thyroid carcinoma somatic Detail
Likely pathogenic 2016-05-13 no assertion criteria provided Multiple endocrine neoplasia, type 1 somatic Detail
Likely pathogenic 2016-05-13 no assertion criteria provided multiple endocrine neoplasia type 2B somatic Detail
Pathogenic 2024-01-16 criteria provided, multiple submitters, no conflicts Multiple endocrine neoplasia, type 2 germline Detail
Pathogenic 2017-10-26 criteria provided, single submitter thyroid gland carcinoma germline Detail
Pathogenic Likely pathogenic 2024-04-04 criteria provided, multiple submitters, no conflicts Hirschsprung disease, susceptibility to, 1 germline unknown 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
0.605 pheochromocytoma NA CLINVAR Detail
0.614 multiple endocrine neoplasia type 2A RET harboring the mutations C634R (MEN 2A) or M918T (MEN 2B), in contrast to wil... BeFree 11389085 Detail
0.592 multiple endocrine neoplasia type 2B RET harboring the mutations C634R (MEN 2A) or M918T (MEN 2B), in contrast to wil... BeFree 11389085 Detail
0.002 Secondary malignant neoplasm of lymph node The diagnosis of Men2a at the age of 80 years and the absence of lymph node meta... BeFree 19201392 Detail
0.179 Papillary thyroid carcinoma Genetic analysis of both tumour components showed a distinctive mutational patte... BeFree 15947103 Detail
0.614 multiple endocrine neoplasia type 2A A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence o... BeFree 9111993 Detail
0.614 multiple endocrine neoplasia type 2A We performed genetic screening in 88 members of an extended family with MEN-2A a... BeFree 12150334 Detail
0.614 multiple endocrine neoplasia type 2A RET Cys634Arg mutation confers a more aggressive multiple endocrine neoplasia ty... BeFree 25515555 Detail
0.001 Amyloidosis, Primary Cutaneous A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence o... BeFree 9111993 Detail
0.614 multiple endocrine neoplasia type 2A A RET C634R mutation in a Thai female with multiple endocrine neoplasia type 2A. BeFree 12930027 Detail
0.001 Secondary malignant neoplasm of lymph node The diagnosis of Men2a at the age of 80 years and the absence of lymph node meta... BeFree 19201392 Detail
0.614 multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2a and germ line C634G RET mutation diagnosed ... BeFree 19201392 Detail
0.003 multiple endocrine neoplasia type 2A The diagnosis of Men2a at the age of 80 years and the absence of lymph node meta... BeFree 19201392 Detail
0.005 hyperparathyroidism These data show a low frequency of hyperparathyroidism in our cases and provide ... BeFree 9820617 Detail
0.614 multiple endocrine neoplasia type 2A The construct was transiently expressed in 293T cells in parallel with a wild-ty... BeFree 15472167 Detail
0.003 multiple endocrine neoplasia type 2A The diagnosis of Men2a at the age of 80 years and the absence of lymph node meta... BeFree 19201392 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 A heterozygous mutation p.Cys634Arg in the RET gene was identified in 5 patients... BeFree 23617071 Detail
0.005 Secondary malignant neoplasm of lymph node The diagnosis of Men2a at the age of 80 years and the absence of lymph node meta... BeFree 19201392 Detail
0.614 multiple endocrine neoplasia type 2A Novel germline mutation in the transmembrane region of RET gene close to Cys634S... BeFree 15592804 Detail
0.614 multiple endocrine neoplasia type 2A Unusual presentation of multiple endocrine neoplasia type 2A in a patient with t... BeFree 18752792 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020975.4(RET):c.[1896G>C;1897C>G;1900T>C] AND Multiple endocrine neoplasia type 2A ClinVar Detail
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) AND Multiple endocrine neoplasia type 2A ClinVar Detail
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) AND Pheochromocytoma ClinVar Detail
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) AND not provided ClinVar Detail
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) AND Multiple endocrine neoplasia type 4 ClinVar Detail
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) AND Medullary thyroid carcinoma ClinVar Detail
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) AND Multiple endocrine neoplasia, type 1 ClinVar Detail
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) AND Multiple endocrine neoplasia type 2B ClinVar Detail
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) AND Multiple endocrine neoplasia, type 2 ClinVar Detail
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) AND Thyroid gland carcinoma ClinVar Detail
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) AND Hirschsprung disease, susceptibility to, 1 ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
RET harboring the mutations C634R (MEN 2A) or M918T (MEN 2B), in contrast to wild-type RET, activate... DisGeNET Detail
RET harboring the mutations C634R (MEN 2A) or M918T (MEN 2B), in contrast to wild-type RET, activate... DisGeNET Detail
The diagnosis of Men2a at the age of 80 years and the absence of lymph node metastasis of the multip... DisGeNET Detail
Genetic analysis of both tumour components showed a distinctive mutational pattern: in the MTC a Cys... DisGeNET Detail
A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine... DisGeNET Detail
We performed genetic screening in 88 members of an extended family with MEN-2A and found 18 members ... DisGeNET Detail
RET Cys634Arg mutation confers a more aggressive multiple endocrine neoplasia type 2A phenotype than... DisGeNET Detail
A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine... DisGeNET Detail
A RET C634R mutation in a Thai female with multiple endocrine neoplasia type 2A. DisGeNET Detail
The diagnosis of Men2a at the age of 80 years and the absence of lymph node metastasis of the multip... DisGeNET Detail
Multiple endocrine neoplasia type 2a and germ line C634G RET mutation diagnosed in an 80-year-old pa... DisGeNET Detail
The diagnosis of Men2a at the age of 80 years and the absence of lymph node metastasis of the multip... DisGeNET Detail
These data show a low frequency of hyperparathyroidism in our cases and provide further evidence tha... DisGeNET Detail
The construct was transiently expressed in 293T cells in parallel with a wild-type RET and a C634R M... DisGeNET Detail
The diagnosis of Men2a at the age of 80 years and the absence of lymph node metastasis of the multip... DisGeNET Detail
These data show a low frequency of hyperparathyroidism in our cases and provide further evidence tha... DisGeNET Detail
A heterozygous mutation p.Cys634Arg in the RET gene was identified in 5 patients with MEN2A and one ... DisGeNET Detail
The diagnosis of Men2a at the age of 80 years and the absence of lymph node metastasis of the multip... DisGeNET Detail
Novel germline mutation in the transmembrane region of RET gene close to Cys634Ser mutation associat... DisGeNET Detail
Unusual presentation of multiple endocrine neoplasia type 2A in a patient with the C634R mutation of... 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
rs267607010 dbSNP
Genome
hg38
Position
chr10:43,114,500-43,114,500
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8634
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1582117211026175E-4
Chromosome Counts in All Race (ExAC)
120860
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.274036074797286E-6
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