chr10:43610046:G>T Detail (hg19) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,610,046-43,610,046
hg38 chr10:43,114,598-43,114,598 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_020975.4:c.1998G>T NP_066124.1:p.Lys666Asn
NM_020630.4:c.1998G>T NP_065681.1:p.Lys666Asn
Ensemble ENST00000355710.8:c.1998G>T ENST00000355710.8:p.Lys666Asn
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-08-18 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic Likely pathogenic 2024-01-05 criteria provided, multiple submitters, no conflicts multiple endocrine neoplasia type 2A germline maternal unknown Detail
Pathogenic Likely pathogenic 2024-01-16 criteria provided, multiple submitters, no conflicts Multiple endocrine neoplasia, type 2 germline unknown Detail
Pathogenic 2021-11-16 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2019-10-31 criteria provided, single submitter familial medullary thyroid carcinoma unknown Detail
not provided no assertion provided Hirschsprung disease, susceptibility to, 1,multiple endocrine neoplasia type 2A unknown Detail
not provided no assertion provided Hirschsprung disease, susceptibility to, 1,multiple endocrine neoplasia type 2A unknown Detail
not provided no assertion provided Multiple endocrine neoplasia, type 2,familial medullary thyroid carcinoma maternal Detail
not provided no assertion provided Multiple endocrine neoplasia, type 2,familial medullary thyroid carcinoma maternal Detail
Pathogenic 2022-03-29 criteria provided, single submitter multiple endocrine neoplasia type 2B,pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1 unknown Detail
Pathogenic 2022-03-29 criteria provided, single submitter multiple endocrine neoplasia type 2B,pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1 unknown Detail
Pathogenic 2022-03-29 criteria provided, single submitter multiple endocrine neoplasia type 2B,pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1 unknown Detail
Pathogenic 2022-03-29 criteria provided, single submitter multiple endocrine neoplasia type 2B,pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1 unknown Detail
Pathogenic 2022-03-29 criteria provided, single submitter multiple endocrine neoplasia type 2B,pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1 unknown Detail
Pathogenic criteria provided, single submitter RET-related disorder germline Detail
Likely pathogenic 2023-08-15 criteria provided, single submitter pheochromocytoma,familial medullary thyroid carcinoma germline Detail
Likely pathogenic 2023-08-15 criteria provided, single submitter pheochromocytoma,familial medullary thyroid carcinoma germline Detail
Pathogenic 2023-06-09 criteria provided, single submitter Hirschsprung disease, susceptibility to, 1 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.320 Medullary carcinoma of thyroid NA CLINVAR Detail
0.614 multiple endocrine neoplasia type 2A NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) AND not provided ClinVar Detail
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) AND Multiple endocrine neoplasia type 2A ClinVar Detail
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) AND Multiple endocrine neoplasia, type 2 ClinVar Detail
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) AND Familial medullary thyroid carcinoma ClinVar Detail
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) AND RET-related disorder ClinVar Detail
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) AND Hirschsprung disease, susceptibility to, 1 ClinVar Detail
NA DisGeNET Detail
NA 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
rs146646971 dbSNP
Genome
hg19
Position
chr10:43,610,046-43,610,046
Variant Type
snv
Reference Allele
G
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8650
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)
121326
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)
2.4726769200336282E-5
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