chr10:43113654:T>G 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	chr10:43,609,102-43,609,102 View the variant detail on this assembly version.
hg38	chr10:43,113,654-43,113,654

HGVS

RET

Type	Transcript	Protein
RefSeq	NM_020630.4:c.1858T>G	NP_065681.1:p.Cys620Gly
	NM_020975.4:c.1858T>G	NP_066124.1:p.Cys620Gly
Ensemble	ENST00000340058.6:c.1858T>G	ENST00000340058.6:p.Cys620Gly
	ENST00000355710.8:c.1858T>G	ENST00000355710.8:p.Cys620Gly
	ENST00000615310.5:c.1462T>G	ENST00000615310.5:p.Cys488Gly
	ENST00000713926.1:c.1729T>G	ENST00000713926.1:p.Cys577Gly

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2016-11-22	criteria provided, single submitter	not specified	germline	Detail
Pathogenic	2022-05-13	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2018-04-10	criteria provided, single submitter	multiple endocrine neoplasia type 2A	germline	Detail
Pathogenic	2017-07-24	criteria provided, single submitter	Multiple endocrine neoplasia, type 2,Aganglionic megacolon	germline	Detail
Pathogenic	2017-07-24	criteria provided, single submitter	Multiple endocrine neoplasia, type 2,Aganglionic megacolon	germline	Detail
Pathogenic	2021-04-15	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-06-26	criteria provided, multiple submitters, no conflicts	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	NA	CLINVAR		Detail
0.614	multiple endocrine neoplasia type 2A	MEN2A (C618S), MEN2A/familial MTC (FMTC) (C620S), and MEN2B (M918T).	BeFree	22199277	Detail
0.592	multiple endocrine neoplasia type 2B	MEN2A (C618S), MEN2A/familial MTC (FMTC) (C620S), and MEN2B (M918T).	BeFree	22199277	Detail
0.522	familial medullary thyroid carcinoma	The predisposing RET mutation in all seven families had been previously reported...	BeFree	9384613	Detail
0.156	Hirschsprung disease 1	RET haplotype, not linked to the C620R activating mutation, associated with Hirs...	BeFree	22584707	Detail
0.522	familial medullary thyroid carcinoma	Also, we briefly review our data from a large familial medullary thyroid carcino...	BeFree	22584721	Detail
0.529	Hirschsprung Disease	RET haplotype, not linked to the C620R activating mutation, associated with Hirs...	BeFree	22584707	Detail

Annotation

Annotations

Descrption	Source	Links
NM_020975.6(RET):c.1858T>G (p.Cys620Gly) AND not specified	ClinVar	Detail
NM_020975.6(RET):c.1858T>G (p.Cys620Gly) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_020975.6(RET):c.1858T>G (p.Cys620Gly) AND Multiple endocrine neoplasia type 2A	ClinVar	Detail
NM_020975.6(RET):c.1858T>G (p.Cys620Gly) AND multiple conditions	ClinVar	Detail
NM_020975.6(RET):c.1858T>G (p.Cys620Gly) AND multiple conditions	ClinVar	Detail
NM_020975.6(RET):c.1858T>G (p.Cys620Gly) AND not provided	ClinVar	Detail
NM_020975.6(RET):c.1858T>G (p.Cys620Gly) AND Multiple endocrine neoplasia, type 2	ClinVar	Detail
NA	DisGeNET	Detail
MEN2A (C618S), MEN2A/familial MTC (FMTC) (C620S), and MEN2B (M918T).	DisGeNET	Detail
MEN2A (C618S), MEN2A/familial MTC (FMTC) (C620S), and MEN2B (M918T).	DisGeNET	Detail
The predisposing RET mutation in all seven families had been previously reported in MEN 2A or FMTC a...	DisGeNET	Detail
RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in ...	DisGeNET	Detail
Also, we briefly review our data from a large familial medullary thyroid carcinoma genealogy harbori...	DisGeNET	Detail
RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in ...	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: rs77316810 dbSNP
Genome: hg38
Position: chr10:43,113,654-43,113,654
Variant Type: snv
Reference Allele: T
Alternative Allele: G

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