chr10:43120120:GC>TT Detail (hg38) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,615,568-43,615,569 View the variant detail on this assembly version.
hg38 chr10:43,120,120-43,120,121

HGVS

Type Transcript Protein
RefSeq NM_020630.4:c.2647_2648delinsTT NP_065681.1:p.Ala883Phe
NM_020975.4:c.2647_2648delinsTT NP_066124.1:p.Ala883Phe
Ensemble ENST00000340058.6:c.2647_2648delinsTT ENST00000340058.6:p.Ala883Phe
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 COSM977 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2023-05-21 criteria provided, single submitter multiple endocrine neoplasia type 2B somatic germline Detail
Likely pathogenic 2015-07-14 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
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
Pathogenic 2022-06-22 criteria provided, single submitter Multiple endocrine neoplasia, type 2 germline Detail
Pathogenic 2023-04-05 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.320 Medullary carcinoma of thyroid Multiple endocrine neoplasia type 2B with a RET proto-oncogene A883F mutation di... BeFree 21186952 Detail
0.614 multiple endocrine neoplasia type 2A Like RET with the M918T or A883F MEN 2B mutation, the transforming activity of R... BeFree 10679286 Detail
0.592 multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2B with a RET proto-oncogene A883F mutation di... BeFree 21186952 Detail
0.592 multiple endocrine neoplasia type 2B NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe) AND Multiple endocrine neoplasia type 2B ClinVar Detail
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe) AND Medullary thyroid carcinoma ClinVar Detail
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe) AND Multiple endocrine neoplasia, type 1 ClinVar Detail
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe) AND Multiple endocrine neoplasia type 2A ClinVar Detail
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe) AND Multiple endocrine neoplasia type 4 ClinVar Detail
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe) AND Multiple endocrine neoplasia, type 2 ClinVar Detail
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe) AND Hereditary cancer-predisposing syndrome ClinVar Detail
Multiple endocrine neoplasia type 2B with a RET proto-oncogene A883F mutation displays a more indole... DisGeNET Detail
Like RET with the M918T or A883F MEN 2B mutation, the transforming activity of RET with the V804M/Y8... DisGeNET Detail
Multiple endocrine neoplasia type 2B with a RET proto-oncogene A883F mutation displays a more indole... DisGeNET Detail
NA 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
rs377767429 dbSNP
Genome
hg38
Position
chr10:43,120,120-43,120,121
Variant Type
snv
Reference Allele
GC
Alternative Allele
TT
Genome browser