chr10:43609950:C>G Detail (hg19) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,609,950-43,609,950
hg38 chr10:43,114,502-43,114,502 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_020630.4:c.1902C>G NP_065681.1:p.Cys634Trp
NM_020975.4:c.1902C>G NP_066124.1:p.Cys634Trp
Ensemble ENST00000713926.1:c.1751-113C>G
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 COSM975 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-03-07 criteria provided, single submitter multiple endocrine neoplasia type 2A germline somatic unknown Detail
Pathogenic 2007-09-27 no assertion criteria provided pheochromocytoma germline Detail
Pathogenic 2022-08-30 criteria provided, multiple submitters, no conflicts not provided germline 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 multiple endocrine neoplasia type 2B somatic Detail
Likely pathogenic 2014-12-26 no assertion criteria provided Thyroid tumor somatic Detail
Likely pathogenic 2016-03-10 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
Pathogenic 2024-01-01 criteria provided, single submitter Multiple endocrine neoplasia, type 2 germline Detail
Pathogenic 2021-12-30 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
thyroid gland medullary carcinoma Motesanib D Predictive Supports Resistance Somatic 3 21422803 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.614 multiple endocrine neoplasia type 2A NA CLINVAR Detail
0.605 pheochromocytoma NA CLINVAR Detail
0.614 multiple endocrine neoplasia type 2A Age-related neoplastic risk profiles and penetrance estimations in multiple endo... BeFree 18794325 Detail
0.320 Medullary carcinoma of thyroid Both in vitro and in vivo assays, using the human TT RET(C634W) MTC cell line, w... BeFree 21325074 Detail
Annotation

Annotations

DescrptionSourceLinks
Medullary thyroid cancer cells with RET C634W mutation are insensitive to motesanib, compared to wil... CIViC Evidence Detail
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) AND Multiple endocrine neoplasia type 2A ClinVar Detail
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) AND Pheochromocytoma ClinVar Detail
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) AND not provided ClinVar Detail
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) AND Multiple endocrine neoplasia type 4 ClinVar Detail
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) AND Multiple endocrine neoplasia type 2B ClinVar Detail
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) AND Thyroid tumor ClinVar Detail
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) AND Medullary thyroid carcinoma ClinVar Detail
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) AND Multiple endocrine neoplasia, type 1 ClinVar Detail
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) AND Multiple endocrine neoplasia, type 2 ClinVar Detail
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type... DisGeNET Detail
Both in vitro and in vivo assays, using the human TT RET(C634W) MTC cell line, were done to assess t... 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
rs77709286 dbSNP
Genome
hg19
Position
chr10:43,609,950-43,609,950
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Variant (CIViC) (CIViC Variant)
C634W
Transcript 1 (CIViC Variant)
ENST00000355710.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/112
Summary (CIViC Variant)
RET C634W has been implicated as an alternate mechanism of activating RET in medullary thyroid cancer. While there currently are no RET-specific inhibiting agents, promiscuous kinase inhibitors have seen some success in treating RET overactivity. Data suggests however, that the C634W mutation may lead to drug resistance, especially against the VEGFR-inhibitor motesanib.
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