chr10:43607621:G>A Detail (hg19) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,607,621-43,607,621
hg38 chr10:43,112,173-43,112,173 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_020975.4:c.1597G>A NP_066124.1:p.Gly533Ser
NM_020630.4:c.1597G>A NP_065681.1:p.Gly533Ser
Ensemble ENST00000355710.8:c.1597G>A ENST00000355710.8:p.Gly533Ser
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 Conflicting classifications of pathogenicity
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
Uncertain significance 2015-12-10 criteria provided, single submitter multiple endocrine neoplasia type 2B unknown Detail
Uncertain significance 2023-04-18 criteria provided, multiple submitters, no conflicts multiple endocrine neoplasia type 2A germline unknown Detail
Uncertain significance 2024-02-01 criteria provided, multiple submitters, no conflicts Multiple endocrine neoplasia, type 2 germline Detail
Likely benign 2020-09-22 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2017-04-27 criteria provided, single submitter Hirschsprung disease, susceptibility to, 1 germline Detail
Uncertain significance 2017-04-27 criteria provided, single submitter pheochromocytoma germline Detail
Uncertain significance 2017-04-27 criteria provided, single submitter multiple endocrine neoplasia germline Detail
Uncertain significance 2017-04-27 criteria provided, single submitter Renal hypodysplasia/aplasia 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.522 familial medullary thyroid carcinoma NA CLINVAR Detail
0.320 Medullary carcinoma of thyroid A ten-year clinical update of a large RET p.Gly533Cys kindred with medullary thy... BeFree 23745650 Detail
0.320 Medullary carcinoma of thyroid We previously described a six-generation family with G533C RET mutation and medu... BeFree 19138318 Detail
0.605 pheochromocytoma We describe the RET G533C mutation in exon 8 of the RET in two unrelated female ... BeFree 18805915 Detail
<0.001 Secondary malignant neoplasm of liver Moreover, RET p.G533C-expressing cells were able to induce liver metastasis in n... BeFree 21834681 Detail
0.614 multiple endocrine neoplasia type 2A The RET p.G533C mutation confers predisposition to multiple endocrine neoplasia ... BeFree 21834681 Detail
0.005 Secondary malignant neoplasm of lymph node Genome-wide copy number analysis in a family with p.G533C RET mutation and medul... BeFree 24601688 Detail
0.522 familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A in two families with the familial medullary... BeFree 18805915 Detail
0.522 familial medullary thyroid carcinoma A novel germ-line point mutation in RET exon 8 (Gly(533)Cys) in a large kindred ... BeFree 14602786 Detail
0.614 multiple endocrine neoplasia type 2A Our group described a p.G533C RET gene mutation in a large family with multiple ... BeFree 24601688 Detail
0.614 multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2A in two families with the familial medullary... BeFree 18805915 Detail
0.614 multiple endocrine neoplasia type 2A We report for the first time a family from the United States with a rare mutatio... BeFree 23461807 Detail
0.320 Medullary carcinoma of thyroid We have previously described a p.G533C substitution in the rearranged during tra... BeFree 21834681 Detail
0.320 Medullary carcinoma of thyroid Genome-wide copy number analysis in a family with p.G533C RET mutation and medul... BeFree 24601688 Detail
0.320 Medullary carcinoma of thyroid We describe the RET G533C mutation in exon 8 of the RET in two unrelated female ... BeFree 18805915 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020975.6(RET):c.1597G>A (p.Gly533Ser) AND Multiple endocrine neoplasia type 2B ClinVar Detail
NM_020975.6(RET):c.1597G>A (p.Gly533Ser) AND Multiple endocrine neoplasia type 2A ClinVar Detail
NM_020975.6(RET):c.1597G>A (p.Gly533Ser) AND Multiple endocrine neoplasia, type 2 ClinVar Detail
NM_020975.6(RET):c.1597G>A (p.Gly533Ser) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_020975.6(RET):c.1597G>A (p.Gly533Ser) AND Hirschsprung disease, susceptibility to, 1 ClinVar Detail
NM_020975.6(RET):c.1597G>A (p.Gly533Ser) AND Pheochromocytoma ClinVar Detail
NM_020975.6(RET):c.1597G>A (p.Gly533Ser) AND Multiple endocrine neoplasia ClinVar Detail
NM_020975.6(RET):c.1597G>A (p.Gly533Ser) AND Renal hypodysplasia/aplasia 1 ClinVar Detail
NA DisGeNET Detail
A ten-year clinical update of a large RET p.Gly533Cys kindred with medullary thyroid carcinoma empha... DisGeNET Detail
We previously described a six-generation family with G533C RET mutation and medullary thyroid carcin... DisGeNET Detail
We describe the RET G533C mutation in exon 8 of the RET in two unrelated female index patients, with... DisGeNET Detail
Moreover, RET p.G533C-expressing cells were able to induce liver metastasis in nude mice. DisGeNET Detail
The RET p.G533C mutation confers predisposition to multiple endocrine neoplasia type 2A in a Brazili... DisGeNET Detail
Genome-wide copy number analysis in a family with p.G533C RET mutation and medullary thyroid carcino... DisGeNET Detail
Multiple endocrine neoplasia type 2A in two families with the familial medullary thyroid carcinoma a... DisGeNET Detail
A novel germ-line point mutation in RET exon 8 (Gly(533)Cys) in a large kindred with familial medull... DisGeNET Detail
Our group described a p.G533C RET gene mutation in a large family with multiple endocrine neoplasia ... DisGeNET Detail
Multiple endocrine neoplasia type 2A in two families with the familial medullary thyroid carcinoma a... DisGeNET Detail
We report for the first time a family from the United States with a rare mutation involving exon 8 o... DisGeNET Detail
We have previously described a p.G533C substitution in the rearranged during transfection (RET) onco... DisGeNET Detail
Genome-wide copy number analysis in a family with p.G533C RET mutation and medullary thyroid carcino... DisGeNET Detail
We describe the RET G533C mutation in exon 8 of the RET in two unrelated female index patients, with... 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
rs75873440 dbSNP
Genome
hg19
Position
chr10:43,607,621-43,607,621
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
1806
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
5.537098560354374E-4
Chromosome Counts in All Race (ExAC)
31866
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
9.414422895876483E-5
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