chr10:43609102:T>C Detail (hg19) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,609,102-43,609,102
hg38 chr10:43,113,654-43,113,654 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_020975.4:c.1858T>C NP_066124.1:p.Cys620Arg
NM_020630.4:c.1858T>C NP_065681.1:p.Cys620Arg
Ensemble ENST00000355710.8:c.1858T>C ENST00000355710.8:p.Cys620Arg
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 COSM29804 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-05-21 criteria provided, single submitter multiple endocrine neoplasia type 2A germline Detail
Pathogenic 2023-08-15 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-09-06 criteria provided, multiple submitters, no conflicts Multiple endocrine neoplasia, type 2 germline Detail
Pathogenic 2022-04-19 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2013-01-01 no assertion criteria provided Aganglionic megacolon unknown Detail
Pathogenic 2018-01-03 criteria provided, single submitter Multiple endocrine neoplasia, type 2,Aganglionic megacolon germline Detail
Pathogenic 2018-01-03 criteria provided, single submitter Multiple endocrine neoplasia, type 2,Aganglionic megacolon germline Detail
Pathogenic 2023-08-29 criteria provided, single submitter Hirschsprung disease, susceptibility to, 1 de novo Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.614 multiple endocrine neoplasia type 2A 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
0.522 familial medullary thyroid carcinoma The predisposing RET mutation in all seven families had been previously reported... BeFree 9384613 Detail
0.156 Hirschsprung disease 1 RET haplotype, not linked to the C620R activating mutation, associated with Hirs... BeFree 22584707 Detail
0.522 familial medullary thyroid carcinoma Also, we briefly review our data from a large familial medullary thyroid carcino... BeFree 22584721 Detail
0.529 Hirschsprung Disease RET haplotype, not linked to the C620R activating mutation, associated with Hirs... BeFree 22584707 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) AND Multiple endocrine neoplasia type 2A ClinVar Detail
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) AND not provided ClinVar Detail
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) AND Multiple endocrine neoplasia, type 2 ClinVar Detail
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) AND Aganglionic megacolon ClinVar Detail
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) AND Hirschsprung disease, susceptibility to, 1 ClinVar 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
The predisposing RET mutation in all seven families had been previously reported in MEN 2A or FMTC a... DisGeNET Detail
RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in ... DisGeNET Detail
Also, we briefly review our data from a large familial medullary thyroid carcinoma genealogy harbori... DisGeNET Detail
RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in ... 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
rs77316810 dbSNP
Genome
hg19
Position
chr10:43,609,102-43,609,102
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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