chr10:43119555:A>G Detail (hg38) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,615,003-43,615,003 View the variant detail on this assembly version.
hg38 chr10:43,119,555-43,119,555

HGVS

Type Transcript Protein
RefSeq NM_020630.4:c.2417A>G NP_065681.1:p.Tyr806Cys
NM_020975.4:c.2417A>G NP_066124.1:p.Tyr806Cys
Ensemble ENST00000340058.6:c.2417A>G ENST00000340058.6:p.Tyr806Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Uncertain significance
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 tgv39098349 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-03-06 criteria provided, single submitter Multiple endocrine neoplasia, type 2 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.614 multiple endocrine neoplasia type 2A Like RET with the M918T or A883F MEN 2B mutation, the transforming activity of R... BeFree 10679286 Detail
0.592 multiple endocrine neoplasia type 2B Y806C is a natural RET mutation identified in a patient affected by multiple end... BeFree 19029224 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020975.6(RET):c.2417A>G (p.Tyr806Cys) AND Multiple endocrine neoplasia, type 2 ClinVar Detail
Like RET with the M918T or A883F MEN 2B mutation, the transforming activity of RET with the V804M/Y8... DisGeNET Detail
Y806C is a natural RET mutation identified in a patient affected by multiple endocrine neoplasia typ... 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
rs377767419 dbSNP
Genome
hg38
Position
chr10:43,119,555-43,119,555
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs377767419
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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