chr10:43118460:A>T Detail (hg38) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,613,908-43,613,908 View the variant detail on this assembly version.
hg38 chr10:43,118,460-43,118,460

HGVS

Type Transcript Protein
RefSeq NM_020630.4:c.2372A>T NP_065681.1:p.Tyr791Phe
NM_020975.4:c.2372A>T NP_066124.1:p.Tyr791Phe
Ensemble ENST00000615310.5:c.1976A>T ENST00000615310.5:p.Tyr659Phe
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 Benign Likely benign
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 tgv39098284 TogoVar
COSMIC COSM1159820 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2005-11-01 no assertion criteria provided familial medullary thyroid carcinoma germline Detail
Likely benign 2017-04-27 criteria provided, single submitter pheochromocytoma germline Detail
Likely benign 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign Likely benign 2020-03-26 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Likely benign 2014-06-01 no assertion criteria provided Aganglionic megacolon germline unknown Detail
Benign Likely benign 2023-08-15 criteria provided, multiple submitters, no conflicts not specified germline Detail
Likely benign 2017-04-27 criteria provided, single submitter Hirschsprung disease, susceptibility to, 1 germline Detail
Likely benign 2017-04-27 criteria provided, single submitter multiple endocrine neoplasia germline Detail
Likely benign 2017-04-27 criteria provided, single submitter Renal hypodysplasia/aplasia 1 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 4 somatic Detail
Likely benign 2019-01-01 criteria provided, single submitter multiple endocrine neoplasia type 2B somatic unknown Detail
Likely benign 2023-04-18 criteria provided, multiple submitters, no conflicts multiple endocrine neoplasia type 2A somatic unknown Detail
Likely pathogenic 2016-05-13 no assertion criteria provided Multiple endocrine neoplasia, type 1 somatic Detail
no classifications from unflagged records 2023-10-12 no classifications from unflagged records Familial cancer of breast inherited Detail
Benign 2024-01-31 criteria provided, multiple submitters, no conflicts Multiple endocrine neoplasia, type 2 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.614 multiple endocrine neoplasia type 2A RET p.Tyr791Phe and p.Ser649Leu and VHL p.Pro81Ser are definitely not pathogenic... BeFree 19906784 Detail
0.012 Von Hippel-Lindau syndrome RET p.Tyr791Phe and p.Ser649Leu and VHL p.Pro81Ser are definitely not pathogenic... BeFree 19906784 Detail
0.126 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.522 familial medullary thyroid carcinoma NA CLINVAR Detail
0.605 pheochromocytoma NA CLINVAR Detail
<0.001 familial medullary thyroid carcinoma Using inhibitors and dominant negative constructs, we have demonstrated that RET... BeFree 17209045 Detail
<0.001 familial medullary thyroid carcinoma Using inhibitors and dominant negative constructs, we have demonstrated that RET... BeFree 17209045 Detail
<0.001 familial medullary thyroid carcinoma Using inhibitors and dominant negative constructs, we have demonstrated that RET... BeFree 17209045 Detail
<0.001 familial medullary thyroid carcinoma Using inhibitors and dominant negative constructs, we have demonstrated that RET... BeFree 17209045 Detail
0.614 multiple endocrine neoplasia type 2A Comprehensive analysis of RET gene should be performed in patients with multiple... BeFree 23723040 Detail
0.605 pheochromocytoma High penetrance of pheochromocytoma associated with the novel C634Y/Y791F double... BeFree 20080836 Detail
<0.001 Hirschsprung disease 1 Four subjects (aged 31-50 years) with co-occurring RET mutations in exons 10 (C6... BeFree 23744765 Detail
<0.001 Hirschsprung Disease Four subjects (aged 31-50 years) with co-occurring RET mutations in exons 10 (C6... BeFree 23744765 Detail
0.529 Hirschsprung Disease NA CLINVAR Detail
0.032 paraganglioma We present the case of a 38-yr-old man with a sporadic, multifocal pheochromocyt... BeFree 16388093 Detail
0.200 Hirschsprung disease, susceptibility to, 1 Germ-line mutations in nonsyndromic pheochromocytoma. UNIPROT 12000816 Detail
<0.001 multiple endocrine neoplasia type 2A Primary hyperparathyroidism (PHP; serum calcium 2.75 mmol/L, PTH 226 pg/ml) had ... BeFree 16356097 Detail
<0.001 multiple endocrine neoplasia type 2A Primary hyperparathyroidism (PHP; serum calcium 2.75 mmol/L, PTH 226 pg/ml) had ... BeFree 16356097 Detail
0.614 multiple endocrine neoplasia type 2A Primary hyperparathyroidism (PHP; serum calcium 2.75 mmol/L, PTH 226 pg/ml) had ... BeFree 16356097 Detail
0.320 Medullary carcinoma of thyroid We previously identified a four-generation family with medullary thyroid cancer ... BeFree 23723040 Detail
0.006 Hyperparathyroidism, Primary Primary hyperparathyroidism as the leading symptom in a patient with a Y791F RET... BeFree 16356097 Detail
0.522 familial medullary thyroid carcinoma Germ-line mutations in nonsyndromic pheochromocytoma. UNIPROT 12000816 Detail
<0.001 multiple endocrine neoplasia type 2A Primary hyperparathyroidism (PHP; serum calcium 2.75 mmol/L, PTH 226 pg/ml) had ... BeFree 16356097 Detail
0.614 multiple endocrine neoplasia type 2A The group of susceptibility genes for pheochromocytoma that included the proto-o... UNIPROT 12000816 Detail
0.109 Thyroid carcinoma We present a large kindred with the Y791F mutation in the RET proto-oncogene tha... BeFree 17483988 Detail
0.605 pheochromocytoma Almost one fourth of patients with apparently sporadic pheochromocytoma may be c... UNIPROT 12000816 Detail
<0.001 multiple endocrine neoplasia type 2A Primary hyperparathyroidism (PHP; serum calcium 2.75 mmol/L, PTH 226 pg/ml) had ... BeFree 16356097 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) AND Familial medullary thyroid carcinoma ClinVar Detail
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) AND Pheochromocytoma ClinVar Detail
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) AND not provided ClinVar Detail
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) AND Aganglionic megacolon ClinVar Detail
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) AND not specified ClinVar Detail
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) AND Hirschsprung disease, susceptibility to, 1 ClinVar Detail
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) AND Multiple endocrine neoplasia ClinVar Detail
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) AND Renal hypodysplasia/aplasia 1 ClinVar Detail
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) AND Medullary thyroid carcinoma ClinVar Detail
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) AND Multiple endocrine neoplasia type 4 ClinVar Detail
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) AND Multiple endocrine neoplasia type 2B ClinVar Detail
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) AND Multiple endocrine neoplasia type 2A ClinVar Detail
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) AND Multiple endocrine neoplasia, type 1 ClinVar Detail
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) AND Familial cancer of breast ClinVar Detail
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) AND Multiple endocrine neoplasia, type 2 ClinVar Detail
RET p.Tyr791Phe and p.Ser649Leu and VHL p.Pro81Ser are definitely not pathogenic mutations for VHL a... DisGeNET Detail
RET p.Tyr791Phe and p.Ser649Leu and VHL p.Pro81Ser are definitely not pathogenic mutations for VHL a... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Using inhibitors and dominant negative constructs, we have demonstrated that RET(Y791F) and RET(S891... DisGeNET Detail
Using inhibitors and dominant negative constructs, we have demonstrated that RET(Y791F) and RET(S891... DisGeNET Detail
Using inhibitors and dominant negative constructs, we have demonstrated that RET(Y791F) and RET(S891... DisGeNET Detail
Using inhibitors and dominant negative constructs, we have demonstrated that RET(Y791F) and RET(S891... DisGeNET Detail
Comprehensive analysis of RET gene should be performed in patients with multiple endocrine neoplasia... DisGeNET Detail
High penetrance of pheochromocytoma associated with the novel C634Y/Y791F double germline mutation i... DisGeNET Detail
Four subjects (aged 31-50 years) with co-occurring RET mutations in exons 10 (C609R; n=1) and 13 (Y7... DisGeNET Detail
Four subjects (aged 31-50 years) with co-occurring RET mutations in exons 10 (C609R; n=1) and 13 (Y7... DisGeNET Detail
NA DisGeNET Detail
We present the case of a 38-yr-old man with a sporadic, multifocal pheochromocytoma and paragangliom... DisGeNET Detail
Germ-line mutations in nonsyndromic pheochromocytoma. DisGeNET Detail
Primary hyperparathyroidism (PHP; serum calcium 2.75 mmol/L, PTH 226 pg/ml) had been the first clini... DisGeNET Detail
Primary hyperparathyroidism (PHP; serum calcium 2.75 mmol/L, PTH 226 pg/ml) had been the first clini... DisGeNET Detail
Primary hyperparathyroidism (PHP; serum calcium 2.75 mmol/L, PTH 226 pg/ml) had been the first clini... DisGeNET Detail
We previously identified a four-generation family with medullary thyroid cancer (MTC) and a germline... DisGeNET Detail
Primary hyperparathyroidism as the leading symptom in a patient with a Y791F RET mutation. DisGeNET Detail
Germ-line mutations in nonsyndromic pheochromocytoma. DisGeNET Detail
Primary hyperparathyroidism (PHP; serum calcium 2.75 mmol/L, PTH 226 pg/ml) had been the first clini... DisGeNET Detail
The group of susceptibility genes for pheochromocytoma that included the proto-oncogene RET (associa... DisGeNET Detail
We present a large kindred with the Y791F mutation in the RET proto-oncogene that did not have medul... DisGeNET Detail
Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations... DisGeNET Detail
Primary hyperparathyroidism (PHP; serum calcium 2.75 mmol/L, PTH 226 pg/ml) had been the first clini... 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
rs77724903 dbSNP
Genome
hg38
Position
chr10:43,118,460-43,118,460
Variant Type
snv
Reference Allele
A
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8588
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)
119802
Allele Counts in All Race (ExAC)
216
Heterozygous Counts in All Race (ExAC)
214
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
0.0018029749085991887
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