chr10:43614996:G>A Detail (hg19) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,614,996-43,614,996
hg38 chr10:43,119,548-43,119,548 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_020630.4:c.2410G>A NP_065681.1:p.Val804Met
NM_020975.4:c.2410G>A NP_066124.1:p.Val804Met
Ensemble ENST00000713926.1:c.2146G>A ENST00000713926.1:p.Val716Met
Summary

MGeND

Clinical significance Pathogenic
Variant entry 3
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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 tgv39098344 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2020/04/20 colon, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2002-01-01 no assertion criteria provided multiple endocrine neoplasia type 2B germline Detail
Pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts Multiple endocrine neoplasia, type 2 germline Detail
Pathogenic 2024-02-06 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic Likely pathogenic 2021-10-04 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic Likely pathogenic 2023-10-13 criteria provided, multiple submitters, no conflicts multiple endocrine neoplasia type 2A germline paternal unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter Congenital central hypoventilation,familial medullary thyroid carcinoma,pheochromocytoma,multiple endocrine neoplasia type 2A,Renal hypodysplasia/aplasia 1,Hirschsprung disease, susceptibility to, 1,multiple endocrine neoplasia type 2B unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter Congenital central hypoventilation,familial medullary thyroid carcinoma,pheochromocytoma,multiple endocrine neoplasia type 2A,Renal hypodysplasia/aplasia 1,Hirschsprung disease, susceptibility to, 1,multiple endocrine neoplasia type 2B unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter Congenital central hypoventilation,familial medullary thyroid carcinoma,pheochromocytoma,multiple endocrine neoplasia type 2A,Renal hypodysplasia/aplasia 1,Hirschsprung disease, susceptibility to, 1,multiple endocrine neoplasia type 2B unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter Congenital central hypoventilation,familial medullary thyroid carcinoma,pheochromocytoma,multiple endocrine neoplasia type 2A,Renal hypodysplasia/aplasia 1,Hirschsprung disease, susceptibility to, 1,multiple endocrine neoplasia type 2B unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter Congenital central hypoventilation,familial medullary thyroid carcinoma,pheochromocytoma,multiple endocrine neoplasia type 2A,Renal hypodysplasia/aplasia 1,Hirschsprung disease, susceptibility to, 1,multiple endocrine neoplasia type 2B unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter Congenital central hypoventilation,familial medullary thyroid carcinoma,pheochromocytoma,multiple endocrine neoplasia type 2A,Renal hypodysplasia/aplasia 1,Hirschsprung disease, susceptibility to, 1,multiple endocrine neoplasia type 2B unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter Congenital central hypoventilation,familial medullary thyroid carcinoma,pheochromocytoma,multiple endocrine neoplasia type 2A,Renal hypodysplasia/aplasia 1,Hirschsprung disease, susceptibility to, 1,multiple endocrine neoplasia type 2B unknown Detail
Pathogenic 2023-04-14 criteria provided, single submitter MEN2 phenotype: Unclassified germline Detail
Pathogenic 2016-06-15 criteria provided, single submitter Medullary thyroid carcinoma germline Detail
Pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts familial medullary thyroid carcinoma de novo germline Detail
Likely pathogenic 2022-01-01 criteria provided, single submitter ovarian cancer germline Detail
Pathogenic 2023-10-27 criteria provided, single submitter Hirschsprung disease, susceptibility to, 1 unknown Detail
Pathogenic Likely pathogenic 2023-12-20 criteria provided, multiple submitters, no conflicts RET-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
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
0.320 Medullary carcinoma of thyroid RET gene analysis showed a p.V804M missense mutation in exon 14, a low- but vari... BeFree 18299477 Detail
0.592 multiple endocrine neoplasia type 2B NA CLINVAR Detail
0.522 familial medullary thyroid carcinoma NA CLINVAR Detail
0.522 familial medullary thyroid carcinoma A RET double mutation in the germline of a kindred with FMTC. UNIPROT 10826520 Detail
0.179 Papillary thyroid carcinoma Of 6 patients with simultaneous hereditary MTC and PTC, 5 revealed late-onset RE... BeFree 21626080 Detail
0.522 familial medullary thyroid carcinoma RET mutations in exons 13 and 14 of FMTC patients. UNIPROT 7784092 Detail
0.109 Thyroid carcinoma One hundred and seven family members with the rearranged during transfection V80... BeFree 19958926 Detail
0.522 familial medullary thyroid carcinoma V804M RET mutation and familial medullary thyroid carcinoma: report of a large f... BeFree 12019403 Detail
<0.001 Precancerous Conditions CCH associated with V804M RET mutation is a precancerous condition and surgery i... BeFree 18299477 Detail
0.522 familial medullary thyroid carcinoma Segregation of the V804L mutation and S836S polymorphism of exon 14 of the RET g... BeFree 12694233 Detail
0.522 familial medullary thyroid carcinoma Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RE... BeFree 10876191 Detail
0.605 pheochromocytoma Asymptomatic bilateral adrenal pheochromocytoma in a patient with a germline V80... BeFree 17466010 Detail
0.179 Papillary thyroid carcinoma We have correlated the presence of specific SNPs and the rare RET V804M mutation... BeFree 21134561 Detail
0.614 multiple endocrine neoplasia type 2A RET proto-oncogene in Sardinia: V804M is the most frequent mutation and may be a... BeFree 17316110 Detail
0.320 Medullary carcinoma of thyroid We have correlated the presence of specific SNPs and the rare RET V804M mutation... BeFree 21134561 Detail
0.320 Medullary carcinoma of thyroid A Case of medullary thyroid carcinoma with de novo V804M RET germline mutation. BeFree 23341727 Detail
<0.001 familial medullary thyroid carcinoma Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RE... BeFree 10876191 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020975.4(RET):c.[2410G>A;2711C>G] AND Multiple endocrine neoplasia type 2B ClinVar Detail
NM_020975.6(RET):c.2410G>A (p.Val804Met) AND Multiple endocrine neoplasia, type 2 ClinVar Detail
NM_020975.6(RET):c.2410G>A (p.Val804Met) AND not provided ClinVar Detail
NM_020975.6(RET):c.2410G>A (p.Val804Met) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_020975.6(RET):c.2410G>A (p.Val804Met) AND Multiple endocrine neoplasia type 2A ClinVar Detail
NM_020975.6(RET):c.2410G>A (p.Val804Met) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.2410G>A (p.Val804Met) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.2410G>A (p.Val804Met) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.2410G>A (p.Val804Met) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.2410G>A (p.Val804Met) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.2410G>A (p.Val804Met) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.2410G>A (p.Val804Met) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.2410G>A (p.Val804Met) AND MEN2 phenotype: Unclassified ClinVar Detail
NM_020975.4(RET):c.[2410G>A;2832C>G] AND Medullary thyroid carcinoma ClinVar Detail
NM_020975.6(RET):c.2410G>A (p.Val804Met) AND Familial medullary thyroid carcinoma ClinVar Detail
NM_020975.6(RET):c.2410G>A (p.Val804Met) AND Ovarian cancer ClinVar Detail
NM_020975.6(RET):c.2410G>A (p.Val804Met) AND Hirschsprung disease, susceptibility to, 1 ClinVar Detail
NM_020975.6(RET):c.2410G>A (p.Val804Met) AND RET-related disorder ClinVar Detail
Like RET with the M918T or A883F MEN 2B mutation, the transforming activity of RET with the V804M/Y8... DisGeNET Detail
RET gene analysis showed a p.V804M missense mutation in exon 14, a low- but variably penetrant defec... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
A RET double mutation in the germline of a kindred with FMTC. DisGeNET Detail
Of 6 patients with simultaneous hereditary MTC and PTC, 5 revealed late-onset REarranged during Tran... DisGeNET Detail
RET mutations in exons 13 and 14 of FMTC patients. DisGeNET Detail
One hundred and seven family members with the rearranged during transfection V804M proto-oncogene mu... DisGeNET Detail
V804M RET mutation and familial medullary thyroid carcinoma: report of a large family with expressio... DisGeNET Detail
CCH associated with V804M RET mutation is a precancerous condition and surgery is recommended. DisGeNET Detail
Segregation of the V804L mutation and S836S polymorphism of exon 14 of the RET gene in an extended k... DisGeNET Detail
Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RET V804M (GTG--&gt;AT... DisGeNET Detail
Asymptomatic bilateral adrenal pheochromocytoma in a patient with a germline V804M mutation in the R... DisGeNET Detail
We have correlated the presence of specific SNPs and the rare RET V804M mutation to MTC, C-cell hype... DisGeNET Detail
RET proto-oncogene in Sardinia: V804M is the most frequent mutation and may be associated with FMTC/... DisGeNET Detail
We have correlated the presence of specific SNPs and the rare RET V804M mutation to MTC, C-cell hype... DisGeNET Detail
A Case of medullary thyroid carcinoma with de novo V804M RET germline mutation. DisGeNET Detail
Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RET V804M (GTG--&gt;AT... 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
rs267607011 dbSNP
Genome
hg19
Position
chr10:43,614,996-43,614,996
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs79658334
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0002
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
4112
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.4319066147859923E-4
Chromosome Counts in All Race (ExAC)
63744
Allele Counts in All Race (ExAC)
13
Heterozygous Counts in All Race (ExAC)
13
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.0394076305220882E-4
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