chr10:43609103:G>A Detail (hg19) (RET)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr10:43,609,103-43,609,103
hg38	chr10:43,113,655-43,113,655 View the variant detail on this assembly version.

HGVS

RET

Type	Transcript	Protein
RefSeq	NM_020630.4:c.1859G>A	NP_065681.1:p.Cys620Tyr
	NM_020975.4:c.1859G>A	NP_066124.1:p.Cys620Tyr
Ensemble	ENST00000713926.1:c.1730G>A	ENST00000713926.1:p.Cys577Tyr
	ENST00000340058.6:c.1859G>A	ENST00000340058.6:p.Cys620Tyr
	ENST00000615310.5:c.1463G>A	ENST00000615310.5:p.Cys488Tyr
	ENST00000355710.8:c.1859G>A	ENST00000355710.8:p.Cys620Tyr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

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 Likely pathogenic	2016-05-13	no assertion criteria provided	multiple endocrine neoplasia type 2A	somatic germline	Detail
Pathogenic	2024-01-17	criteria provided, single submitter	Multiple endocrine neoplasia, type 2	germline	Detail
Pathogenic	2021-10-07	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Likely pathogenic	2016-05-13	no assertion criteria provided	Medullary thyroid carcinoma	somatic	Detail
Likely pathogenic	2016-05-13	no assertion criteria provided	Multiple endocrine neoplasia, type 1	somatic	Detail
Likely pathogenic	2016-05-13	no assertion criteria provided	multiple endocrine neoplasia type 2B	somatic	Detail
Likely pathogenic	2016-05-13	no assertion criteria provided	multiple endocrine neoplasia type 4	somatic	Detail
Pathogenic	2009-04-30	no assertion criteria provided	Aganglionic megacolon	germline	Detail
Pathogenic	2022-12-20	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.614	multiple endocrine neoplasia type 2A	NA	CLINVAR		Detail
0.522	familial medullary thyroid carcinoma	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
0.614	multiple endocrine neoplasia type 2A	Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diag...	UNIPROT	7915165	Detail
0.522	familial medullary thyroid carcinoma	Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diag...	UNIPROT	7915165	Detail

Annotation

Annotations

Descrption	Source	Links
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) AND Multiple endocrine neoplasia type 2A	ClinVar	Detail
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) AND Multiple endocrine neoplasia, type 2	ClinVar	Detail
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) AND not provided	ClinVar	Detail
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) AND Medullary thyroid carcinoma	ClinVar	Detail
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) AND Multiple endocrine neoplasia, type 1	ClinVar	Detail
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) AND Multiple endocrine neoplasia type 2B	ClinVar	Detail
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) AND Multiple endocrine neoplasia type 4	ClinVar	Detail
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) AND Aganglionic megacolon	ClinVar	Detail
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NA	DisGeNET	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
Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests.	DisGeNET	Detail
Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests.	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: rs77503355 dbSNP
Genome: hg19
Position: chr10:43,609,103-43,609,103
Variant Type: snv
Reference Allele: G
Alternative Allele: A

Genome browser