chr10:43100585:G>A Detail (hg38) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,596,033-43,596,033 View the variant detail on this assembly version.
hg38 chr10:43,100,585-43,100,585

HGVS

Type Transcript Protein
RefSeq NM_020630.4:c.200G>A NP_065681.1:p.Arg67His
NM_020975.4:c.200G>A NP_066124.1:p.Arg67His
Ensemble ENST00000340058.6:c.200G>A ENST00000340058.6:p.Arg67His
Summary

MGeND

Clinical significance Benign
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.004
ToMMo:0.003
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.011

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 tgv39097079 TogoVar
COSMIC COSM3675733 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign Centenarian germline MGS000068
(TMGS000140)
Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2017-04-12 criteria provided, single submitter not provided germline Detail
Benign Likely benign 2022-08-14 criteria provided, multiple submitters, no conflicts not specified germline Detail
Likely benign 2018-06-04 criteria provided, single submitter Hirschsprung disease, susceptibility to, 1 germline Detail
Likely benign 2018-06-04 criteria provided, single submitter multiple endocrine neoplasia germline Detail
Likely benign 2018-06-04 criteria provided, single submitter Renal hypodysplasia/aplasia 1 germline Detail
Likely benign 2018-06-04 criteria provided, single submitter pheochromocytoma germline Detail
Benign Likely benign 2021-03-08 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts Multiple endocrine neoplasia, type 2 germline Detail
Likely benign 2022-11-10 criteria provided, single submitter multiple endocrine neoplasia type 2A germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.362 familial medullary thyroid carcinoma The results confirmed the successful clinical utility of whole exome sequencing,... BeFree 21655256 Detail
0.522 familial medullary thyroid carcinoma The results confirmed the successful clinical utility of whole exome sequencing,... BeFree 21655256 Detail
0.241 Congenital central hypoventilation Mutations of the RET, GFRA1, PHOX2A, and HASH-1 genes may also be involved in th... UNIPROT 14566559 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020975.6(RET):c.200G>A (p.Arg67His) AND not provided ClinVar Detail
NM_020975.6(RET):c.200G>A (p.Arg67His) AND not specified ClinVar Detail
NM_020975.6(RET):c.200G>A (p.Arg67His) AND Hirschsprung disease, susceptibility to, 1 ClinVar Detail
NM_020975.6(RET):c.200G>A (p.Arg67His) AND Multiple endocrine neoplasia ClinVar Detail
NM_020975.6(RET):c.200G>A (p.Arg67His) AND Renal hypodysplasia/aplasia 1 ClinVar Detail
NM_020975.6(RET):c.200G>A (p.Arg67His) AND Pheochromocytoma ClinVar Detail
NM_020975.6(RET):c.200G>A (p.Arg67His) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_020975.6(RET):c.200G>A (p.Arg67His) AND Multiple endocrine neoplasia, type 2 ClinVar Detail
NM_020975.6(RET):c.200G>A (p.Arg67His) AND Multiple endocrine neoplasia type 2A ClinVar Detail
The results confirmed the successful clinical utility of whole exome sequencing, and our data sugges... DisGeNET Detail
The results confirmed the successful clinical utility of whole exome sequencing, and our data sugges... DisGeNET Detail
Mutations of the RET, GFRA1, PHOX2A, and HASH-1 genes may also be involved in the pathogenesis of CC... 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
rs192489011 dbSNP
Genome
hg38
Position
chr10:43,100,585-43,100,585
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1209
Mean of sample read depth (HGVD)
116.34
Standard deviation of sample read depth (HGVD)
57.63
Number of reference allele (HGVD)
2408
Number of alternative allele (HGVD)
10
Allele Frequency (HGVD)
0.0041356492969396195
Gene Symbol (HGVD)
RET
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))
rs192489011
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0032
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
54
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8598
East Asian Allele Counts (ExAC)
93
East Asian Heterozygous Counts (ExAC)
93
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.010816468946266573
Chromosome Counts in All Race (ExAC)
119866
Allele Counts in All Race (ExAC)
123
Heterozygous Counts in All Race (ExAC)
123
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.0010261458628802163
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