chr10:43119626:G>A Detail (hg38) (RET)

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

Information

Genome

Assembly	Position
hg19	chr10:43,615,074-43,615,074 View the variant detail on this assembly version.
hg38	chr10:43,119,626-43,119,626

HGVS

Type	Transcript	Protein
RefSeq	NM_020630.4:c.2488G>A	NP_065681.1:p.Gly830Arg
	NM_020975.4:c.2488G>A	NP_066124.1:p.Gly830Arg
Ensemble	ENST00000340058.6:c.2488G>A	ENST00000340058.6:p.Gly830Arg
	ENST00000355710.8:c.2488G>A	ENST00000355710.8:p.Gly830Arg
	ENST00000615310.5:c.2092G>A	ENST00000615310.5:p.Gly698Arg
	ENST00000713926.1:c.2224G>A	ENST00000713926.1:p.Gly742Arg

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
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	tgv367229859	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2015-12-01	criteria provided, single submitter	multiple endocrine neoplasia type 2B	unknown	Detail
Uncertain significance	2023-04-17	criteria provided, multiple submitters, no conflicts	multiple endocrine neoplasia type 2A	unknown	Detail
Uncertain significance	2023-12-04	criteria provided, single submitter	Multiple endocrine neoplasia, type 2	germline	Detail
Benign	2022-04-19	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2022-03-09	criteria provided, single submitter	pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1	unknown	Detail
Uncertain significance	2022-03-09	criteria provided, single submitter	pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1	unknown	Detail
Uncertain significance	2022-03-09	criteria provided, single submitter	pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1	unknown	Detail
Uncertain significance	2022-03-09	criteria provided, single submitter	pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1	unknown	Detail
Uncertain significance	2022-03-09	criteria provided, single submitter	pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2B,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1	unknown	Detail
Uncertain significance	2022-12-28	criteria provided, single submitter	RET-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.200	Hirschsprung disease, susceptibility to, 1	RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patie...	UNIPROT	22174939	Detail

Annotation

Annotations

Descrption	Source	Links
NM_020975.6(RET):c.2488G>A (p.Gly830Arg) AND Multiple endocrine neoplasia type 2B	ClinVar	Detail
NM_020975.6(RET):c.2488G>A (p.Gly830Arg) AND Multiple endocrine neoplasia type 2A	ClinVar	Detail
NM_020975.6(RET):c.2488G>A (p.Gly830Arg) AND Multiple endocrine neoplasia, type 2	ClinVar	Detail
NM_020975.6(RET):c.2488G>A (p.Gly830Arg) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_020975.6(RET):c.2488G>A (p.Gly830Arg) AND multiple conditions	ClinVar	Detail
NM_020975.6(RET):c.2488G>A (p.Gly830Arg) AND multiple conditions	ClinVar	Detail
NM_020975.6(RET):c.2488G>A (p.Gly830Arg) AND multiple conditions	ClinVar	Detail
NM_020975.6(RET):c.2488G>A (p.Gly830Arg) AND multiple conditions	ClinVar	Detail
NM_020975.6(RET):c.2488G>A (p.Gly830Arg) AND multiple conditions	ClinVar	Detail
NM_020975.6(RET):c.2488G>A (p.Gly830Arg) AND RET-related disorder	ClinVar	Detail
RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.	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: rs200127630 dbSNP
Genome: hg38
Position: chr10:43,119,626-43,119,626
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8472
East Asian Allele Counts (ExAC): 4
East Asian Heterozygous Counts (ExAC): 4
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 4.7214353163361664E-4
Chromosome Counts in All Race (ExAC): 115672
Allele Counts in All Race (ExAC): 4
Heterozygous Counts in All Race (ExAC): 4
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.458053807317242E-5

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