chr17:41215890:C>G Detail (hg19) (BRCA1)

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

Genome

Assembly	Position
hg19	chr17:41,215,890-41,215,890
hg38	chr17:43,063,873-43,063,873 View the variant detail on this assembly version.

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007300.3:c.5215+1G>C
	NM_007298.3:c.1840+1G>C
	NM_007294.3:c.5152+1G>C
	NM_007299.3:c.1840+1G>C
	NM_007297.3:c.5011+1G>C
Ensemble	ENST00000478531.6:c.1840+1G>C
	ENST00000471181.7:c.5215+1G>C
	ENST00000591849.5:c.-98-13683G>C
	ENST00000586385.5:c.82+1G>C
	ENST00000493919.6:c.1702+1G>C
	ENST00000491747.6:c.1840+1G>C
	ENST00000357654.9:c.5152+1G>C
	ENST00000468300.5:c.1840+1G>C
	ENST00000493795.5:c.5011+1G>C
	ENST00000484087.6:c.1714+1G>C
	ENST00000352993.7:c.1726+1G>C
	ENST00000591534.5:c.625+1G>C
	ENST00000477152.6:c.5074+1G>C
	ENST00000461574.2:c.5149+1G>C
	ENST00000470026.6:c.5152+1G>C
	ENST00000473961.6:c.5026+1G>C
	ENST00000476777.6:c.5146+1G>C
	ENST00000489037.2:c.5074+1G>C
	ENST00000494123.6:c.5152+1G>C
	ENST00000497488.2:c.4264+1G>C
	ENST00000618469.2:c.5152+1G>C
	ENST00000634433.2:c.5029+1G>C
	ENST00000644379.2:c.5218+1G>C
	ENST00000644555.2:c.1702+1G>C
	ENST00000713676.1:c.5152+1G>C

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Links

BRCA1

Type	Database	ID	Link
Gene	MIM	113705	OMIM
	HGNC	1100	HGNC
	Ensembl	ENSG00000012048	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		breast-ovarian cancer, familial, susceptibility to	germline	MGS000001 (TMGS000154)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2021-08-12	criteria provided, multiple submitters, no conflicts	Breast-ovarian cancer, familial, susceptibility to, 1	unknown not applicable germline	Detail
Pathogenic	2023-11-17	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2022-06-05	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2022-01-19	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-06-14	criteria provided, single submitter	BRCA1-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	Breast-ovarian cancer, familial, susceptibility to, 1	NA	CLINVAR		Detail
0.196	Breast Cancer, Familial	NA	CLINVAR		Detail
0.420	Hereditary Breast and Ovarian Cancer Syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.5152+1G>C AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
NM_007294.4(BRCA1):c.5152+1G>C AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5152+1G>C AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.5152+1G>C AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5152+1G>C AND BRCA1-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs80358094 dbSNP
Genome: hg19
Position: chr17:41,215,890-41,215,890
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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