chr10:43118458:G>C Detail (hg38) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,613,906-43,613,906 View the variant detail on this assembly version.
hg38 chr10:43,118,458-43,118,458

HGVS

Type Transcript Protein
RefSeq NM_020630.4:c.2370G>C NP_065681.1:p.Leu790Phe
NM_020975.4:c.2370G>C NP_066124.1:p.Leu790Phe
Ensemble ENST00000340058.6:c.2370G>C ENST00000340058.6:p.Leu790Phe
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

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 tgv271850855 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-04-18 criteria provided, multiple submitters, no conflicts multiple endocrine neoplasia type 2A germline unknown Detail
Pathogenic Likely pathogenic 2022-01-20 criteria provided, multiple submitters, no conflicts familial medullary thyroid carcinoma germline Detail
Pathogenic 2023-10-09 criteria provided, single submitter Multiple endocrine neoplasia, type 2 germline Detail
Pathogenic 2017-07-21 criteria provided, single submitter not provided germline Detail
Pathogenic 2020-10-29 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline 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
0.522 familial medullary thyroid carcinoma This case report describes three generations of a family with familial medullary... BeFree 22965292 Detail
0.614 multiple endocrine neoplasia type 2A A new hot spot for mutations in the ret protooncogene causing familial medullary... UNIPROT 9506724 Detail
0.522 familial medullary thyroid carcinoma A new hot spot for mutations in the ret protooncogene causing familial medullary... UNIPROT 9506724 Detail
0.179 Papillary thyroid carcinoma Of 6 patients with simultaneous hereditary MTC and PTC, 5 revealed late-onset RE... BeFree 21626080 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020975.6(RET):c.2370G>C (p.Leu790Phe) AND Multiple endocrine neoplasia type 2A ClinVar Detail
NM_020975.6(RET):c.2370G>C (p.Leu790Phe) AND Familial medullary thyroid carcinoma ClinVar Detail
NM_020975.6(RET):c.2370G>C (p.Leu790Phe) AND Multiple endocrine neoplasia, type 2 ClinVar Detail
NM_020975.6(RET):c.2370G>C (p.Leu790Phe) AND not provided ClinVar Detail
NM_020975.6(RET):c.2370G>C (p.Leu790Phe) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
This case report describes three generations of a family with familial medullary thyroid cancer (RET... DisGeNET Detail
A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma a... DisGeNET Detail
A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma a... DisGeNET Detail
Of 6 patients with simultaneous hereditary MTC and PTC, 5 revealed late-onset REarranged during Tran... 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
rs75030001 dbSNP
Genome
hg38
Position
chr10:43,118,458-43,118,458
Variant Type
snv
Reference Allele
G
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8594
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
119958
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.33625102119075E-6
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