chr13:48373493:G>A Detail (hg38) (RB1)

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

Genome

Assembly	Position
hg19	chr13:48,947,629-48,947,629 View the variant detail on this assembly version.
hg38	chr13:48,373,493-48,373,493

HGVS

RB1

Type	Transcript	Protein
RefSeq	NM_000321.2:c.1215+1G>A
Ensemble	ENST00000267163.6:c.1215+1G>A
	ENST00000650461.1:c.1215+1G>A
	ENST00000713856.1:c.1215+1G>A
	ENST00000713857.1:c.1215+1G>A
	ENST00000713858.1:c.1215+1G>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

RB1

Type	Database	ID	Link
Gene	MIM	614041	OMIM
	HGNC	9884	HGNC
	Ensembl	ENSG00000139687	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM1015	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2024-05-20	criteria provided, conflicting interpretations	retinoblastoma	de novo germline somatic	Detail
Pathogenic	2023-08-03	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Malignant tumor of urinary bladder,retinoblastoma,Small cell lung carcinoma,bone osteosarcoma	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Malignant tumor of urinary bladder,retinoblastoma,Small cell lung carcinoma,bone osteosarcoma	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Malignant tumor of urinary bladder,retinoblastoma,Small cell lung carcinoma,bone osteosarcoma	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Malignant tumor of urinary bladder,retinoblastoma,Small cell lung carcinoma,bone osteosarcoma	unknown	Detail
Pathogenic	2023-10-26	criteria provided, single submitter	Malignant tumor of urinary bladder	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.500	retinoblastoma	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000321.3(RB1):c.1215+1G>A AND Retinoblastoma	ClinVar	Detail
NM_000321.3(RB1):c.1215+1G>A AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000321.3(RB1):c.1215+1G>A AND multiple conditions	ClinVar	Detail
NM_000321.3(RB1):c.1215+1G>A AND multiple conditions	ClinVar	Detail
NM_000321.3(RB1):c.1215+1G>A AND multiple conditions	ClinVar	Detail
NM_000321.3(RB1):c.1215+1G>A AND multiple conditions	ClinVar	Detail
NM_000321.3(RB1):c.1215+1G>A AND Malignant tumor of urinary bladder	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs587776783 dbSNP
Genome: hg38
Position: chr13:48,373,493-48,373,493
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8612
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): 120806
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.277734549608463E-6

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