chr17:43057078:G>A Detail (hg38) (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	chr17:41,209,095-41,209,095 View the variant detail on this assembly version.
hg38	chr17:43,057,078-43,057,078

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.5251C>T	NP_009225.1:p.Arg1751Ter
	NM_007299.3:c.1939C>T	NP_009230.2:p.Arg647Ter
	NM_007300.3:c.5314C>T	NP_009231.2:p.Arg1772Ter
	NM_007298.3:c.1939C>T	NP_009229.2:p.Arg647Ter
	NM_007297.3:c.5110C>T	NP_009228.2:p.Arg1704Ter
Ensemble	ENST00000352993.7:c.1825C>T	ENST00000352993.7:p.Arg609Ter
	ENST00000357654.9:c.5251C>T	ENST00000357654.9:p.Arg1751Ter
	ENST00000461574.2:c.5248C>T	ENST00000461574.2:p.Arg1750Ter
	ENST00000468300.5:c.1939C>T	ENST00000468300.5:p.Arg647Ter
	ENST00000470026.6:c.5251C>T	ENST00000470026.6:p.Arg1751Ter
	ENST00000471181.7:c.5314C>T	ENST00000471181.7:p.Arg1772Ter
	ENST00000473961.6:c.5125C>T	ENST00000473961.6:p.Arg1709Ter
	ENST00000476777.6:c.5245C>T	ENST00000476777.6:p.Arg1749Ter
	ENST00000477152.6:c.5173C>T	ENST00000477152.6:p.Arg1725Ter
	ENST00000478531.6:c.1939C>T	ENST00000478531.6:p.Arg647Ter
	ENST00000484087.6:c.1813C>T	ENST00000484087.6:p.Arg605Ter
	ENST00000489037.2:c.5173C>T	ENST00000489037.2:p.Arg1725Ter
	ENST00000491747.6:c.1939C>T	ENST00000491747.6:p.Arg647Ter
	ENST00000493795.5:c.5110C>T	ENST00000493795.5:p.Arg1704Ter
	ENST00000493919.6:c.1801C>T	ENST00000493919.6:p.Arg601Ter
	ENST00000494123.6:c.5251C>T	ENST00000494123.6:p.Arg1751Ter
	ENST00000497488.2:c.4363C>T	ENST00000497488.2:p.Arg1455Ter
	ENST00000586385.5:c.181C>T	ENST00000586385.5:p.Arg61Ter
	ENST00000591534.5:c.724C>T	ENST00000591534.5:p.Arg242Ter
	ENST00000591849.5:c.-98-6888C>T
	ENST00000618469.2:c.5251C>T	ENST00000618469.2:p.Arg1751Ter
	ENST00000634433.2:c.5128C>T	ENST00000634433.2:p.Arg1710Ter
	ENST00000644379.2:c.5317C>T	ENST00000644379.2:p.Arg1773Ter
	ENST00000644555.2:c.1801C>T	ENST00000644555.2:p.Arg601Ter
	ENST00000713676.1:c.5251C>T	ENST00000713676.1:p.Arg1751Ter

Summary

MGeND

Clinical significance
Variant entry
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	COSM4066736	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-01-31	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2023-08-15	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2016-04-22	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	germline inherited maternal not applicable not provided unknown	Detail
Pathogenic	2022-09-26	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic		criteria provided, single submitter	Breast neoplasm	germline	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1,Pancreatic cancer, susceptibility to, 4,Fanconi anemia, complementation group S,Familial cancer of breast	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1,Pancreatic cancer, susceptibility to, 4,Fanconi anemia, complementation group S,Familial cancer of breast	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1,Pancreatic cancer, susceptibility to, 4,Fanconi anemia, complementation group S,Familial cancer of breast	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1,Pancreatic cancer, susceptibility to, 4,Fanconi anemia, complementation group S,Familial cancer of breast	unknown	Detail
Pathogenic	2018-10-17	no assertion criteria provided	Familial cancer of breast	germline	Detail
Pathogenic	2019-06-11	no assertion criteria provided	Breast and/or ovarian cancer	germline	Detail

CIViC

[No Data.]

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) AND Breast-ovarian cancer, familial, susceptibility to, ...	ClinVar	Detail
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) AND Breast neoplasm	ClinVar	Detail
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) AND Familial cancer of breast	ClinVar	Detail
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) AND Breast and/or ovarian cancer	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	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: rs80357123 dbSNP
Genome: hg38
Position: chr17:43,057,078-43,057,078
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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