chr10:43113649:G>T Detail (hg38) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,609,097-43,609,097 View the variant detail on this assembly version.
hg38 chr10:43,113,649-43,113,649

HGVS

Type Transcript Protein
RefSeq NM_020630.4:c.1853G>T NP_065681.1:p.Cys618Phe
NM_020975.4:c.1853G>T NP_066124.1:p.Cys618Phe
Ensemble ENST00000340058.6:c.1853G>T ENST00000340058.6:p.Cys618Phe
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2020-02-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-03-13 criteria provided, single submitter Multiple endocrine neoplasia, type 2 germline Detail
Pathogenic 2022-10-13 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2024-01-05 criteria provided, single submitter multiple endocrine neoplasia type 2A 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
0.522 familial medullary thyroid carcinoma NA CLINVAR Detail
0.614 multiple endocrine neoplasia type 2A MEN2A (C618S), MEN2A/familial MTC (FMTC) (C620S), and MEN2B (M918T). BeFree 22199277 Detail
0.592 multiple endocrine neoplasia type 2B MEN2A (C618S), MEN2A/familial MTC (FMTC) (C620S), and MEN2B (M918T). BeFree 22199277 Detail
0.614 multiple endocrine neoplasia type 2A RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer. UNIPROT 7849720 Detail
0.200 Hirschsprung disease, susceptibility to, 1 RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer. UNIPROT 7849720 Detail
0.522 familial medullary thyroid carcinoma RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer. UNIPROT 7849720 Detail
0.522 familial medullary thyroid carcinoma A Korean family of familial medullary thyroid cancer with Cys618Ser RET germline... BeFree 20119574 Detail
0.614 multiple endocrine neoplasia type 2A Therefore, we suggest that MEN 2A families should not be subclassified into MEN ... BeFree 9003111 Detail
0.522 familial medullary thyroid carcinoma The predisposing RET mutation in all seven families had been previously reported... BeFree 9384613 Detail
0.522 familial medullary thyroid carcinoma Case report: a p.C618S RET proto-oncogene germline mutation in a large Chinese p... BeFree 22068382 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020975.6(RET):c.1853G>T (p.Cys618Phe) AND not provided ClinVar Detail
NM_020975.6(RET):c.1853G>T (p.Cys618Phe) AND Multiple endocrine neoplasia, type 2 ClinVar Detail
NM_020975.6(RET):c.1853G>T (p.Cys618Phe) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_020975.6(RET):c.1853G>T (p.Cys618Phe) AND Multiple endocrine neoplasia type 2A ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
MEN2A (C618S), MEN2A/familial MTC (FMTC) (C620S), and MEN2B (M918T). DisGeNET Detail
MEN2A (C618S), MEN2A/familial MTC (FMTC) (C620S), and MEN2B (M918T). DisGeNET Detail
RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer. DisGeNET Detail
RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer. DisGeNET Detail
RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer. DisGeNET Detail
A Korean family of familial medullary thyroid cancer with Cys618Ser RET germline mutation. DisGeNET Detail
Therefore, we suggest that MEN 2A families should not be subclassified into MEN 2A and FMTC, but rat... DisGeNET Detail
The predisposing RET mutation in all seven families had been previously reported in MEN 2A or FMTC a... DisGeNET Detail
Case report: a p.C618S RET proto-oncogene germline mutation in a large Chinese pedigree with familia... 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
rs79781594 dbSNP
Genome
hg38
Position
chr10:43,113,649-43,113,649
Variant Type
snv
Reference Allele
G
Alternative Allele
T
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