chr10:43615117:G>A Detail (hg19) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,615,117-43,615,117
hg38 chr10:43,119,669-43,119,669 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_020975.4:c.2531G>A NP_066124.1:p.Arg844Gln
NM_020630.4:c.2531G>A NP_065681.1:p.Arg844Gln
Ensemble ENST00000615310.5:c.2135G>A ENST00000615310.5:p.Arg712Gln
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 COSM918123 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2024-01-18 criteria provided, single submitter Multiple endocrine neoplasia, type 2 germline Detail
Benign 2023-06-21 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2023-04-18 criteria provided, multiple submitters, no conflicts multiple endocrine neoplasia type 2A germline unknown Detail
Uncertain significance 2020-12-22 criteria provided, single submitter familial medullary thyroid carcinoma unknown Detail
Uncertain significance 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Uncertain significance 2023-10-13 criteria provided, single submitter Hirschsprung disease, susceptibility to, 1 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.522 familial medullary thyroid carcinoma A RET double mutation in the germline of a kindred with FMTC. UNIPROT 10826520 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020975.6(RET):c.2531G>A (p.Arg844Gln) AND Multiple endocrine neoplasia, type 2 ClinVar Detail
NM_020975.6(RET):c.2531G>A (p.Arg844Gln) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_020975.6(RET):c.2531G>A (p.Arg844Gln) AND Multiple endocrine neoplasia type 2A ClinVar Detail
NM_020975.6(RET):c.2531G>A (p.Arg844Gln) AND Familial medullary thyroid carcinoma ClinVar Detail
NM_020975.6(RET):c.2531G>A (p.Arg844Gln) AND not provided ClinVar Detail
NM_020975.6(RET):c.2531G>A (p.Arg844Gln) AND Hirschsprung disease, susceptibility to, 1 ClinVar Detail
A RET double mutation in the germline of a kindred with FMTC. 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
rs55947360 dbSNP
Genome
hg19
Position
chr10:43,615,117-43,615,117
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8574
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.3326335432703523E-4
Chromosome Counts in All Race (ExAC)
119466
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)
5.859407697587598E-5
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