chr10:43609070:G>A Detail (hg19) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,609,070-43,609,070
hg38 chr10:43,113,622-43,113,622 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_020975.4:c.1826G>A NP_066124.1:p.Cys609Tyr
NM_020630.4:c.1826G>A NP_065681.1:p.Cys609Tyr
Ensemble ENST00000355710.8:c.1826G>A ENST00000355710.8:p.Cys609Tyr
Summary

MGeND

Clinical significance
Variant entry
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 COSM967 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2017-02-28 no assertion criteria provided MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE germline Detail
Pathogenic 2022-05-18 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2024-01-21 criteria provided, multiple submitters, no conflicts Multiple endocrine neoplasia, type 2 germline Detail
Pathogenic 2023-04-18 criteria provided, multiple submitters, no conflicts multiple endocrine neoplasia type 2A somatic unknown germline 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 Medullary thyroid carcinoma somatic Detail
Likely pathogenic 2016-05-13 no assertion criteria provided multiple endocrine neoplasia type 2B somatic Detail
Likely pathogenic 2016-05-13 no assertion criteria provided multiple endocrine neoplasia type 4 somatic Detail
Pathogenic 2018-12-20 criteria provided, single submitter familial medullary thyroid carcinoma unknown Detail
not provided no assertion provided multiple endocrine neoplasia type 2A,familial medullary thyroid carcinoma unknown Detail
not provided no assertion provided multiple endocrine neoplasia type 2A,familial medullary thyroid carcinoma unknown Detail
Pathogenic 2021-12-06 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-09-23 criteria provided, single submitter Hirschsprung disease, susceptibility to, 1 unknown Detail
Pathogenic 2024-02-16 criteria provided, single submitter RET-related disorder germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
thyroid gland medullary carcinoma B Predisposing Supports Pathogenic Rare Germline 4 19472011 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.614 multiple endocrine neoplasia type 2A NA CLINVAR Detail
0.522 familial medullary thyroid carcinoma The predisposing RET mutation in all seven families had been previously reported... BeFree 9384613 Detail
0.320 Medullary carcinoma of thyroid Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with... BeFree 16343103 Detail
0.006 Hyperparathyroidism, Primary In conclusion, at variance from what already known, in this large kindred the Cy... BeFree 19475497 Detail
0.605 pheochromocytoma In conclusion, at variance from what already known, in this large kindred the Cy... BeFree 19475497 Detail
0.320 Medullary carcinoma of thyroid In conclusion, at variance from what already known, in this large kindred the Cy... BeFree 19475497 Detail
0.614 multiple endocrine neoplasia type 2A In this short review article, we comment on our previous report of a large multi... BeFree 22584703 Detail
0.605 pheochromocytoma Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with... BeFree 16343103 Detail
0.006 Hyperparathyroidism, Primary In this short review article, we comment on our previous report of a large multi... BeFree 22584703 Detail
0.305 multiple endocrine neoplasia Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with... BeFree 16343103 Detail
0.320 Medullary carcinoma of thyroid In this short review article, we comment on our previous report of a large multi... BeFree 22584703 Detail
0.614 multiple endocrine neoplasia type 2A Two mutations (C609Y and C620R) we identified have previously been associated wi... UNIPROT 7633441 Detail
0.200 Hirschsprung disease, susceptibility to, 1 Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. UNIPROT 7633441 Detail
0.522 familial medullary thyroid carcinoma Two mutations (C609Y and C620R) we identified have previously been associated wi... UNIPROT 7633441 Detail
Annotation

Annotations

DescrptionSourceLinks
Study of a family with three generations of history indicating co-segregation of RET C609Y and multi... CIViC Evidence Detail
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) AND MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRU... ClinVar Detail
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) AND not provided ClinVar Detail
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) AND Multiple endocrine neoplasia, type 2 ClinVar Detail
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) AND Multiple endocrine neoplasia type 2A ClinVar Detail
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) AND Multiple endocrine neoplasia, type 1 ClinVar Detail
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) AND Medullary thyroid carcinoma ClinVar Detail
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) AND Multiple endocrine neoplasia type 2B ClinVar Detail
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) AND Multiple endocrine neoplasia type 4 ClinVar Detail
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) AND Familial medullary thyroid carcinoma ClinVar Detail
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) AND Hirschsprung disease, susceptibility to, 1 ClinVar Detail
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) AND RET-related disorder ClinVar Detail
NA DisGeNET Detail
The predisposing RET mutation in all seven families had been previously reported in MEN 2A or FMTC a... DisGeNET Detail
Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma an... DisGeNET Detail
In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation... DisGeNET Detail
In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation... DisGeNET Detail
In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation... DisGeNET Detail
In this short review article, we comment on our previous report of a large multiple endocrine neopla... DisGeNET Detail
Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma an... DisGeNET Detail
In this short review article, we comment on our previous report of a large multiple endocrine neopla... DisGeNET Detail
Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma an... DisGeNET Detail
In this short review article, we comment on our previous report of a large multiple endocrine neopla... DisGeNET Detail
Two mutations (C609Y and C620R) we identified have previously been associated with multiple endocrin... DisGeNET Detail
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. DisGeNET Detail
Two mutations (C609Y and C620R) we identified have previously been associated with multiple endocrin... 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
rs77939446 dbSNP
Genome
hg19
Position
chr10:43,609,070-43,609,070
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
C609Y
Transcript 1 (CIViC Variant)
ENST00000355710.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1260
Summary (CIViC Variant)
There is some functional evidence that this variant leads to reduced RET activity (PMID: 9230192) and increased cell proliferation and resistance to apoptosis (PMID: 16715139). It has been widely reported in both familial and sporadic cases of multiple endocrine neoplasia type 2 with medullary thyroid cancers. Despite extensive WGS and Exome coverage for a combined total of ~150k alleles in the GNOMAD browser, this variant has never been observed.
Genome browser