chr10:43114491:G>A Detail (hg38) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,609,939-43,609,939 View the variant detail on this assembly version.
hg38 chr10:43,114,491-43,114,491

HGVS

Type Transcript Protein
RefSeq NM_020630.4:c.1891G>A NP_065681.1:p.Asp631Asn
NM_020975.4:c.1891G>A NP_066124.1:p.Asp631Asn
Ensemble ENST00000340058.6:c.1891G>A ENST00000340058.6:p.Asp631Asn
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 COSM1237916 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2017-07-31 criteria provided, single submitter not provided germline Detail
Likely benign 2021-11-29 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2023-08-06 criteria provided, single submitter Multiple endocrine neoplasia, type 2 germline Detail
Uncertain significance 2019-09-25 criteria provided, single submitter not specified germline Detail
Uncertain significance 2022-04-27 criteria provided, single submitter multiple endocrine neoplasia type 2B,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,pheochromocytoma,Hirschsprung disease, susceptibility to, 1 unknown Detail
Uncertain significance 2022-04-27 criteria provided, single submitter multiple endocrine neoplasia type 2B,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,pheochromocytoma,Hirschsprung disease, susceptibility to, 1 unknown Detail
Uncertain significance 2022-04-27 criteria provided, single submitter multiple endocrine neoplasia type 2B,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,pheochromocytoma,Hirschsprung disease, susceptibility to, 1 unknown Detail
Uncertain significance 2022-04-27 criteria provided, single submitter multiple endocrine neoplasia type 2B,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,pheochromocytoma,Hirschsprung disease, susceptibility to, 1 unknown Detail
Uncertain significance 2022-04-27 criteria provided, single submitter multiple endocrine neoplasia type 2B,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,pheochromocytoma,Hirschsprung disease, susceptibility to, 1 unknown Detail
Uncertain significance 2023-06-22 criteria provided, single submitter Hirschsprung disease, susceptibility to, 1 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.614 multiple endocrine neoplasia type 2A NA CLINVAR Detail
0.605 pheochromocytoma Patients with RET D631Y mutations most commonly present with pheochromocytoma an... BeFree 22274720 Detail
<0.001 multiple endocrine neoplasia type 2A We report here on a rare extracellular mutation of the RET gene that led to the ... BeFree 16839264 Detail
0.320 Medullary carcinoma of thyroid Patients with RET D631Y mutations most commonly present with pheochromocytoma an... BeFree 22274720 Detail
0.614 multiple endocrine neoplasia type 2A We report here on a rare extracellular mutation of the RET gene that led to the ... BeFree 16839264 Detail
0.305 multiple endocrine neoplasia A rare extracellular D631Y germline mutation of the RET proto-oncogene in two Ko... BeFree 16839264 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020975.6(RET):c.1891G>A (p.Asp631Asn) AND not provided ClinVar Detail
NM_020975.6(RET):c.1891G>A (p.Asp631Asn) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_020975.6(RET):c.1891G>A (p.Asp631Asn) AND Multiple endocrine neoplasia, type 2 ClinVar Detail
NM_020975.6(RET):c.1891G>A (p.Asp631Asn) AND not specified ClinVar Detail
NM_020975.6(RET):c.1891G>A (p.Asp631Asn) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.1891G>A (p.Asp631Asn) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.1891G>A (p.Asp631Asn) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.1891G>A (p.Asp631Asn) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.1891G>A (p.Asp631Asn) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.1891G>A (p.Asp631Asn) AND Hirschsprung disease, susceptibility to, 1 ClinVar Detail
NA DisGeNET Detail
Patients with RET D631Y mutations most commonly present with pheochromocytoma and not medullary thyr... DisGeNET Detail
We report here on a rare extracellular mutation of the RET gene that led to the substitution of a ty... DisGeNET Detail
Patients with RET D631Y mutations most commonly present with pheochromocytoma and not medullary thyr... DisGeNET Detail
We report here on a rare extracellular mutation of the RET gene that led to the substitution of a ty... DisGeNET Detail
A rare extracellular D631Y germline mutation of the RET proto-oncogene in two Korean families with m... 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
rs377767406 dbSNP
Genome
hg38
Position
chr10:43,114,491-43,114,491
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8626
East Asian Allele Counts (ExAC)
4
East Asian Heterozygous Counts (ExAC)
4
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
4.637143519591931E-4
Chromosome Counts in All Race (ExAC)
120738
Allele Counts in All Race (ExAC)
7
Heterozygous Counts in All Race (ExAC)
7
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.797677615994964E-5
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