chr10:43114596:A>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	chr10:43,610,044-43,610,044 View the variant detail on this assembly version.
hg38	chr10:43,114,596-43,114,596

HGVS

RET

Type	Transcript	Protein
RefSeq	NM_020630.4:c.1996A>G	NP_065681.1:p.Lys666Glu
	NM_020975.4:c.1996A>G	NP_066124.1:p.Lys666Glu
Ensemble	ENST00000340058.6:c.1996A>G	ENST00000340058.6:p.Lys666Glu
	ENST00000355710.8:c.1996A>G	ENST00000355710.8:p.Lys666Glu
	ENST00000615310.5:c.1600A>G	ENST00000615310.5:p.Lys534Glu
	ENST00000713926.1:c.1751-19A>G

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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	2024-01-21	criteria provided, multiple submitters, no conflicts	Multiple endocrine neoplasia, type 2	germline	Detail
Likely benign	2014-06-01	no assertion criteria provided	Medullary thyroid carcinoma	germline	Detail
Pathogenic	2023-08-28	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2022-03-03	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely pathogenic	2021-04-28	criteria provided, single submitter	Hirschsprung disease, susceptibility to, 1	germline	Detail
Pathogenic	2022-02-16	criteria provided, single submitter	Hirschsprung disease, susceptibility to, 1,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 2A,pheochromocytoma	unknown	Detail
Pathogenic	2022-02-16	criteria provided, single submitter	Hirschsprung disease, susceptibility to, 1,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 2A,pheochromocytoma	unknown	Detail
Pathogenic	2022-02-16	criteria provided, single submitter	Hirschsprung disease, susceptibility to, 1,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 2A,pheochromocytoma	unknown	Detail
Pathogenic	2022-02-16	criteria provided, single submitter	Hirschsprung disease, susceptibility to, 1,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 2A,pheochromocytoma	unknown	Detail
Pathogenic	2022-02-16	criteria provided, single submitter	Hirschsprung disease, susceptibility to, 1,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 2A,pheochromocytoma	unknown	Detail
Likely pathogenic	2024-01-05	criteria provided, single submitter	multiple endocrine neoplasia type 2A	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.320	Medullary carcinoma of thyroid	NA	CLINVAR		Detail
0.320	Medullary carcinoma of thyroid	It was not possible to define whether K666E is a de novo or inherited RET varian...	BeFree	21690267	Detail

Annotation

Annotations

Descrption	Source	Links
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) AND Multiple endocrine neoplasia, type 2	ClinVar	Detail
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) AND Medullary thyroid carcinoma	ClinVar	Detail
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) AND not provided	ClinVar	Detail
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) AND Hirschsprung disease, susceptibility to, 1	ClinVar	Detail
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) AND multiple conditions	ClinVar	Detail
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) AND multiple conditions	ClinVar	Detail
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) AND multiple conditions	ClinVar	Detail
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) AND multiple conditions	ClinVar	Detail
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) AND multiple conditions	ClinVar	Detail
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) AND Multiple endocrine neoplasia type 2A	ClinVar	Detail
NA	DisGeNET	Detail
It was not possible to define whether K666E is a de novo or inherited RET variant in the patient, as...	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: rs143795581 dbSNP
Genome: hg38
Position: chr10:43,114,596-43,114,596
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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