chr10:43114542:G>A 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	chr10:43,609,990-43,609,990 View the variant detail on this assembly version.
hg38	chr10:43,114,542-43,114,542

HGVS

RET

Type	Transcript	Protein
RefSeq	NM_020630.4:c.1942G>A	NP_065681.1:p.Val648Ile
	NM_020975.4:c.1942G>A	NP_066124.1:p.Val648Ile
Ensemble	ENST00000340058.6:c.1942G>A	ENST00000340058.6:p.Val648Ile
	ENST00000355710.8:c.1942G>A	ENST00000355710.8:p.Val648Ile
	ENST00000615310.5:c.1546G>A	ENST00000615310.5:p.Val516Ile
	ENST00000713926.1:c.1751-73G>A

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

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	tgv271850719	TogoVar
	COSMIC	COSM1223553	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2023-04-18	criteria provided, conflicting interpretations	multiple endocrine neoplasia type 2A	germline unknown	Detail
Likely benign	2017-09-01	criteria provided, single submitter	not provided	germline	Detail
Benign Likely benign	2021-11-15	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Likely benign	2017-09-29	criteria provided, single submitter	not specified	germline	Detail
Likely benign	2024-01-27	criteria provided, single submitter	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
0.126	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_020975.6(RET):c.1942G>A (p.Val648Ile) AND Multiple endocrine neoplasia type 2A	ClinVar	Detail
NM_020975.6(RET):c.1942G>A (p.Val648Ile) AND not provided	ClinVar	Detail
NM_020975.6(RET):c.1942G>A (p.Val648Ile) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_020975.6(RET):c.1942G>A (p.Val648Ile) AND not specified	ClinVar	Detail
NM_020975.6(RET):c.1942G>A (p.Val648Ile) AND Multiple endocrine neoplasia, type 2	ClinVar	Detail
NA	DisGeNET	Detail
NA	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: rs77711105 dbSNP
Genome: hg38
Position: chr10:43,114,542-43,114,542
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8644
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): 121196
Allele Counts in All Race (ExAC): 11
Heterozygous Counts in All Race (ExAC): 11
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 9.076207135549028E-5

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