chr17:41258474:T>C Detail (hg19) (BRCA1)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr17:41,258,474-41,258,474
hg38	chr17:43,106,457-43,106,457 View the variant detail on this assembly version.

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007300.3:c.211A>G	NP_009231.2:p.Arg71Gly
	NM_007294.3:c.211A>G	NP_009225.1:p.Arg71Gly
	NM_007299.3:c.211A>G	NP_009230.2:p.Arg71Gly
	NM_007297.3:c.70A>G	NP_009228.2:p.Arg24Gly
	NM_007298.3:c.211A>G	NP_009229.2:p.Arg71Gly
Ensemble	ENST00000497488.2:c.-218-11597A>G
	ENST00000471181.7:c.211A>G	ENST00000471181.7:p.Arg71Gly
	ENST00000591534.5:c.-44+18814A>G
	ENST00000461574.2:c.211A>G	ENST00000461574.2:p.Arg71Gly
	ENST00000357654.9:c.211A>G	ENST00000357654.9:p.Arg71Gly
	ENST00000352993.7:c.211A>G	ENST00000352993.7:p.Arg71Gly
	ENST00000493919.6:c.70A>G	ENST00000493919.6:p.Arg24Gly
	ENST00000468300.5:c.211A>G	ENST00000468300.5:p.Arg71Gly
	ENST00000644555.2:c.70A>G	ENST00000644555.2:p.Arg24Gly
	ENST00000473961.6:c.211A>G	ENST00000473961.6:p.Arg71Gly
	ENST00000477152.6:c.135-1501A>G
	ENST00000478531.6:c.211A>G	ENST00000478531.6:p.Arg71Gly
	ENST00000484087.6:c.211A>G	ENST00000484087.6:p.Arg71Gly
	ENST00000494123.6:c.211A>G	ENST00000494123.6:p.Arg71Gly
	ENST00000493795.5:c.70A>G	ENST00000493795.5:p.Arg24Gly
	ENST00000476777.6:c.211A>G	ENST00000476777.6:p.Arg71Gly
	ENST00000700182.1:c.135-1501A>G
	ENST00000489037.2:c.135-1501A>G
	ENST00000634433.2:c.211A>G	ENST00000634433.2:p.Arg71Gly
	ENST00000591849.5:c.-99+18814A>G
	ENST00000644379.2:c.211A>G	ENST00000644379.2:p.Arg71Gly
	ENST00000713676.1:c.211A>G	ENST00000713676.1:p.Arg71Gly
	ENST00000491747.6:c.211A>G	ENST00000491747.6:p.Arg71Gly
	ENST00000470026.6:c.211A>G	ENST00000470026.6:p.Arg71Gly
	ENST00000618469.2:c.211A>G	ENST00000618469.2:p.Arg71Gly
	ENST00000586385.5:c.4+18725A>G

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2019-06-18	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	not applicable germline somatic unknown	Detail
Pathogenic	2023-09-18	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2022-12-22	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2024-01-31	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline unknown	Detail
Pathogenic	2017-02-23	criteria provided, single submitter	Familial cancer of breast	germline unknown	Detail
Pathogenic	2018-07-02	criteria provided, single submitter	not specified	germline	Detail
Pathogenic	2021-12-08	criteria provided, single submitter	Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4,Breast-ovarian cancer, familial, susceptibility to, 1	unknown	Detail
Pathogenic	2021-12-08	criteria provided, single submitter	Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4,Breast-ovarian cancer, familial, susceptibility to, 1	unknown	Detail
Pathogenic	2021-12-08	criteria provided, single submitter	Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4,Breast-ovarian cancer, familial, susceptibility to, 1	unknown	Detail
Pathogenic	2021-12-08	criteria provided, single submitter	Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4,Breast-ovarian cancer, familial, susceptibility to, 1	unknown	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
ovarian cancer	Rucaparib	C	Predictive	Supports	Sensitivity/Response	Somatic		27908594	Detail

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
0.126	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.420	Hereditary Breast and Ovarian Cancer Syndrome	NA	CLINVAR		Detail
0.360	Malignant neoplasm of breast	There was some evidence (two-sided P = 0.09) that 330A>G (R71G) in BRCA1 may ...	BeFree	18451254	Detail
0.420	Hereditary Breast and Ovarian Cancer Syndrome	We demonstrate that disruption of alternative transcript ratios is the mechanism...	BeFree	19123044	Detail
0.196	Breast Cancer, Familial	In a BRCA1 screening in familial breast cancer carried out in different centres ...	BeFree	11385711	Detail
0.080	breast carcinoma	There was some evidence (two-sided P = 0.09) that 330A>G (R71G) in BRCA1 may ...	BeFree	18451254	Detail

Annotation

Annotations

Descrption	Source	Links
In a phase 2 study of 206 recurrent, platinum-sensitive, high-grade ovarian cancer patients, patient...	CIViC Evidence	Detail
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) AND Familial cancer of breast	ClinVar	Detail
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) AND not specified	ClinVar	Detail
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
There was some evidence (two-sided P = 0.09) that 330A>G (R71G) in BRCA1 may have lower breast ca...	DisGeNET	Detail
We demonstrate that disruption of alternative transcript ratios is the mechanism causing hereditary ...	DisGeNET	Detail
In a BRCA1 screening in familial breast cancer carried out in different centres in Spain, France, an...	DisGeNET	Detail
There was some evidence (two-sided P = 0.09) that 330A>G (R71G) in BRCA1 may have lower breast ca...	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: rs80357382 dbSNP
Genome: hg19
Position: chr17:41,258,474-41,258,474
Variant Type: snv
Reference Allele: T
Alternative Allele: C
Variant (CIViC) (CIViC Variant): R71G
Transcript 1 (CIViC Variant): ENST00000471181.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1240

Genome browser