chr10:43118392:G>C Detail (hg38) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,613,840-43,613,840 View the variant detail on this assembly version.
hg38 chr10:43,118,392-43,118,392

HGVS

Type Transcript Protein
RefSeq NM_020630.4:c.2304G>C NP_065681.1:p.Glu768Asp
NM_020975.4:c.2304G>C NP_066124.1:p.Glu768Asp
Ensemble ENST00000340058.6:c.2304G>C ENST00000340058.6:p.Glu768Asp
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 COSM4601199 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2002-06-01 no assertion criteria provided familial medullary thyroid carcinoma germline Detail
Pathogenic 2023-08-22 criteria provided, single submitter Multiple endocrine neoplasia, type 2 germline 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 2015-07-14 no assertion criteria provided Neoplasm somatic Detail
Likely pathogenic 2016-05-13 no assertion criteria provided multiple endocrine neoplasia type 2A somatic 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 1 somatic Detail
Pathogenic 2023-11-03 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2022-09-12 criteria provided, single submitter not provided germline Detail
Likely pathogenic 2022-05-17 no assertion criteria provided hepatocellular carcinoma germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.522 familial medullary thyroid carcinoma NA CLINVAR Detail
0.031 Malignant neoplasm of thyroid The RET E768D mutation is associated with MTC with a later age at presentation, ... BeFree 16736292 Detail
0.522 familial medullary thyroid carcinoma RET mutations in exons 13 and 14 of FMTC patients. UNIPROT 7784092 Detail
0.522 familial medullary thyroid carcinoma The RET mutation E768D confers a late-onset familial medullary thyroid carcinoma... BeFree 16736292 Detail
0.320 Medullary carcinoma of thyroid RET mutation analysis confirmed an E768D mutation in exon 13 in 8 family members... BeFree 16736292 Detail
0.109 Thyroid carcinoma The RET E768D mutation is associated with MTC with a later age at presentation, ... BeFree 16736292 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) AND Familial medullary thyroid carcinoma ClinVar Detail
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) AND Multiple endocrine neoplasia, type 2 ClinVar Detail
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) AND Medullary thyroid carcinoma ClinVar Detail
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) AND Multiple endocrine neoplasia type 2B ClinVar Detail
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) AND Neoplasm ClinVar Detail
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) AND Multiple endocrine neoplasia type 2A ClinVar Detail
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) AND Multiple endocrine neoplasia type 4 ClinVar Detail
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) AND Multiple endocrine neoplasia, type 1 ClinVar Detail
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) AND not provided ClinVar Detail
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) AND Hepatocellular carcinoma ClinVar Detail
NA DisGeNET Detail
The RET E768D mutation is associated with MTC with a later age at presentation, incomplete penetranc... DisGeNET Detail
RET mutations in exons 13 and 14 of FMTC patients. DisGeNET Detail
The RET mutation E768D confers a late-onset familial medullary thyroid carcinoma -- only phenotype w... DisGeNET Detail
RET mutation analysis confirmed an E768D mutation in exon 13 in 8 family members, 3 affected with me... DisGeNET Detail
The RET E768D mutation is associated with MTC with a later age at presentation, incomplete penetranc... 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
rs78014899 dbSNP
Genome
hg38
Position
chr10:43,118,392-43,118,392
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser