chr10:43601830:G>A Detail (hg19) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,601,830-43,601,830
hg38 chr10:43,106,382-43,106,382 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_020975.4:c.874G>A NP_066124.1:p.Val292Met
NM_020630.4:c.874G>A NP_065681.1:p.Val292Met
Ensemble ENST00000713926.1:c.745G>A ENST00000713926.1:p.Val249Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.002
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.006

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 tgv39097413 TogoVar
COSMIC COSM6381457 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2021-11-03 criteria provided, conflicting interpretations not provided unknown germline Detail
Likely benign 2022-08-14 criteria provided, single submitter not specified germline Detail
Likely benign 2018-06-04 criteria provided, single submitter pheochromocytoma 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 Renal hypodysplasia/aplasia 1 germline Detail
Likely benign 2018-06-04 criteria provided, single submitter multiple endocrine neoplasia germline Detail
Conflicting interpretations of pathogenicity 2021-12-02 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2018-11-21 criteria provided, single submitter multiple endocrine neoplasia type 2B unknown Detail
Benign 2024-02-01 criteria provided, single submitter Multiple endocrine neoplasia, type 2 germline Detail
Likely benign 2024-01-23 criteria provided, single submitter Hereditary cancer unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.614 multiple endocrine neoplasia type 2A NA CLINVAR Detail
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
0.605 pheochromocytoma A novel de novo germ-line V292M mutation in the extracellular region of RET in a... BeFree 20039896 Detail
0.320 Medullary carcinoma of thyroid A novel de novo germ-line V292M mutation in the extracellular region of RET in a... BeFree 20039896 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020975.6(RET):c.874G>A (p.Val292Met) AND not provided ClinVar Detail
NM_020975.6(RET):c.874G>A (p.Val292Met) AND not specified ClinVar Detail
NM_020975.6(RET):c.874G>A (p.Val292Met) AND Pheochromocytoma ClinVar Detail
NM_020975.6(RET):c.874G>A (p.Val292Met) AND Hirschsprung disease, susceptibility to, 1 ClinVar Detail
NM_020975.6(RET):c.874G>A (p.Val292Met) AND Renal hypodysplasia/aplasia 1 ClinVar Detail
NM_020975.6(RET):c.874G>A (p.Val292Met) AND Multiple endocrine neoplasia ClinVar Detail
NM_020975.6(RET):c.874G>A (p.Val292Met) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_020975.6(RET):c.874G>A (p.Val292Met) AND Multiple endocrine neoplasia type 2B ClinVar Detail
NM_020975.6(RET):c.874G>A (p.Val292Met) AND Multiple endocrine neoplasia, type 2 ClinVar Detail
NM_020975.6(RET):c.874G>A (p.Val292Met) AND Hereditary cancer ClinVar Detail
NA DisGeNET 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
A novel de novo germ-line V292M mutation in the extracellular region of RET in a patient with phaeoc... DisGeNET Detail
A novel de novo germ-line V292M mutation in the extracellular region of RET in a patient with phaeoc... 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
rs34682185 dbSNP
Genome
hg19
Position
chr10:43,601,830-43,601,830
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
970
Mean of sample read depth (HGVD)
19.14
Standard deviation of sample read depth (HGVD)
10.04
Number of reference allele (HGVD)
1937
Number of alternative allele (HGVD)
3
Allele Frequency (HGVD)
0.0015463917525773195
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))
rs34682185
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0009
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8336
East Asian Allele Counts (ExAC)
52
East Asian Heterozygous Counts (ExAC)
52
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.006238003838771593
Chromosome Counts in All Race (ExAC)
113512
Allele Counts in All Race (ExAC)
64
Heterozygous Counts in All Race (ExAC)
64
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.638170413700754E-4
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