chr10:101611294:G>A Detail (hg19) (ABCC2)

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

Genome

Assembly	Position
hg19	chr10:101,611,294-101,611,294
hg38	chr10:99,851,537-99,851,537 View the variant detail on this assembly version.

HGVS

ABCC2

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000647814.1:c.4544G>A	ENST00000647814.1:p.Cys1515Tyr

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	Benign Likely benign
Review star
Show details

Links

ABCC2

Type	Database	ID	Link
Gene	MIM	601107	OMIM
	HGNC	53	HGNC
	Ensembl	ENSG00000023839	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
Benign	2018-03-06	criteria provided, single submitter	Dubin-Johnson syndrome	germline	Detail
Benign	2024-02-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely benign	2021-07-21	criteria provided, single submitter	ABCC2-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	congestive heart failure	Multivariate analysis revealed that the odds of CHF was higher in females [Odds ...	BeFree	23927520	Detail
0.132	Hypertensive disease	Multivariate analysis revealed that the odds of CHF was higher in females [Odds ...	BeFree	23927520	Detail
0.126	Cholestasis of pregnancy	To study the association of three common ABCB11 and ABCC2 polymorphisms (ABCB11:...	BeFree	18176959	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000392.5(ABCC2):c.4544G>A (p.Cys1515Tyr) AND Dubin-Johnson syndrome	ClinVar	Detail
NM_000392.5(ABCC2):c.4544G>A (p.Cys1515Tyr) AND not provided	ClinVar	Detail
NM_000392.5(ABCC2):c.4544G>A (p.Cys1515Tyr) AND ABCC2-related disorder	ClinVar	Detail
Multivariate analysis revealed that the odds of CHF was higher in females [Odds Ratio (OR) = 2·9, P ...	DisGeNET	Detail
Multivariate analysis revealed that the odds of CHF was higher in females [Odds Ratio (OR) = 2·9, P ...	DisGeNET	Detail
To study the association of three common ABCB11 and ABCC2 polymorphisms (ABCB11: 1331T>C --> V...	DisGeNET	Detail
Non melanoma specific model (lymphoma). Increased cardiotoxicity. Phase III RCT comparing variants o...	MMMP	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: rs8187710 dbSNP
Genome: hg19
Position: chr10:101,611,294-101,611,294
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8648
East Asian Allele Counts (ExAC): 6
East Asian Heterozygous Counts (ExAC): 6
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 6.938020351526364E-4
Chromosome Counts in All Race (ExAC): 121398
Allele Counts in All Race (ExAC): 6359
Heterozygous Counts in All Race (ExAC): 5747
Homozygous Counts in All Race (ExAC): 306
Allele Frequency in All Race (ExAC): 0.05238142308769502
MMMP State (molecule) (MMMP): polymorphism Cys1515Tyr (rs8187710)

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