chr10:43113656:C>T Detail (hg38) (RET)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr10:43,609,104-43,609,104 View the variant detail on this assembly version.
hg38	chr10:43,113,656-43,113,656

HGVS

RET

Type	Transcript	Protein
RefSeq	NM_020630.4:c.1860C>T	NP_065681.1:p.Cys620=
	NM_020975.4:c.1860C>T	NP_066124.1:p.Cys620=
Ensemble	ENST00000340058.6:c.1860C>T	ENST00000340058.6:p.Cys620=
	ENST00000355710.8:c.1860C>T	ENST00000355710.8:p.Cys620=
	ENST00000615310.5:c.1464C>T	ENST00000615310.5:p.Cys488=
	ENST00000713926.1:c.1731C>T	ENST00000713926.1:p.Cys577=

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
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Links

RET

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	tgv271850691	TogoVar
	COSMIC	COSM5469403	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2023-12-26	criteria provided, single submitter	Multiple endocrine neoplasia, type 2	germline	Detail
Conflicting interpretations of pathogenicity	2021-10-08	criteria provided, conflicting interpretations	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.522	familial medullary thyroid carcinoma	The predisposing RET mutation in all seven families had been previously reported...	BeFree	9384613	Detail

Annotation

Annotations

Descrption	Source	Links
NM_020975.6(RET):c.1860C>T (p.Cys620=) AND Multiple endocrine neoplasia, type 2	ClinVar	Detail
NM_020975.6(RET):c.1860C>T (p.Cys620=) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
The predisposing RET mutation in all seven families had been previously reported in MEN 2A or FMTC a...	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: rs79890926 dbSNP
Genome: hg38
Position: chr10:43,113,656-43,113,656
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8058
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): 110634
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 9.038812661568777E-6

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