chr17:41258504:A>C Detail (hg19) (BRCA1)

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

Information

Genome

Assembly	Position
hg19	chr17:41,258,504-41,258,504
hg38	chr17:43,106,487-43,106,487 View the variant detail on this assembly version.

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007298.3:c.181T>G	NP_009229.2:p.Cys61Gly
	NM_007294.3:c.181T>G	NP_009225.1:p.Cys61Gly
	NM_007300.3:c.181T>G	NP_009231.2:p.Cys61Gly
	NM_007297.3:c.40T>G	NP_009228.2:p.Cys14Gly
	NM_007299.3:c.181T>G	NP_009230.2:p.Cys61Gly
Ensemble	ENST00000489037.2:c.135-1531T>G
	ENST00000476777.6:c.181T>G	ENST00000476777.6:p.Cys61Gly
	ENST00000700182.1:c.135-1531T>G
	ENST00000470026.6:c.181T>G	ENST00000470026.6:p.Cys61Gly
	ENST00000491747.6:c.181T>G	ENST00000491747.6:p.Cys61Gly
	ENST00000586385.5:c.4+18695T>G
	ENST00000618469.2:c.181T>G	ENST00000618469.2:p.Cys61Gly
	ENST00000713676.1:c.181T>G	ENST00000713676.1:p.Cys61Gly
	ENST00000644379.2:c.181T>G	ENST00000644379.2:p.Cys61Gly
	ENST00000591849.5:c.-99+18784T>G
	ENST00000634433.2:c.181T>G	ENST00000634433.2:p.Cys61Gly
	ENST00000493919.6:c.40T>G	ENST00000493919.6:p.Cys14Gly
	ENST00000352993.7:c.181T>G	ENST00000352993.7:p.Cys61Gly
	ENST00000357654.9:c.181T>G	ENST00000357654.9:p.Cys61Gly
	ENST00000461574.2:c.181T>G	ENST00000461574.2:p.Cys61Gly
	ENST00000471181.7:c.181T>G	ENST00000471181.7:p.Cys61Gly
	ENST00000497488.2:c.-218-11627T>G
	ENST00000591534.5:c.-44+18784T>G
	ENST00000493795.5:c.40T>G	ENST00000493795.5:p.Cys14Gly
	ENST00000484087.6:c.181T>G	ENST00000484087.6:p.Cys61Gly
	ENST00000494123.6:c.181T>G	ENST00000494123.6:p.Cys61Gly
	ENST00000478531.6:c.181T>G	ENST00000478531.6:p.Cys61Gly
	ENST00000477152.6:c.135-1531T>G
	ENST00000473961.6:c.181T>G	ENST00000473961.6:p.Cys61Gly
	ENST00000644555.2:c.40T>G	ENST00000644555.2:p.Cys14Gly
	ENST00000468300.5:c.181T>G	ENST00000468300.5:p.Cys61Gly

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	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	2015-08-10	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	unknown not provided not applicable germline somatic	Detail
Pathogenic	2024-01-31	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline unknown	Detail
Pathogenic	2023-09-05	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2024-03-01	criteria provided, multiple submitters, no conflicts	not provided	unknown germline	Detail
Pathogenic	2022-11-29	criteria provided, multiple submitters, no conflicts	Familial cancer of breast	unknown germline	Detail
Pathogenic		criteria provided, single submitter	Breast neoplasm	germline	Detail
Pathogenic	2022-10-24	criteria provided, single submitter	breast carcinoma	unknown	Detail
Pathogenic	2022-05-03	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4	unknown	Detail
Pathogenic	2022-05-03	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4	unknown	Detail
Pathogenic	2022-05-03	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4	unknown	Detail
Pathogenic	2022-05-03	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4	unknown	Detail
Pathogenic	2018-12-01	no assertion criteria provided	Neoplasm of ovary	germline	Detail
Pathogenic	2019-06-11	no assertion criteria provided	Breast and/or ovarian cancer	germline	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
0.280	Malignant neoplasm of ovary	Our analysis shows that testing of 4153delA, 5382insC, C61G BRCA1 mutations shou...	BeFree	16261409	Detail
0.082	ovarian carcinoma	Our analysis shows that testing of 4153delA, 5382insC, C61G BRCA1 mutations shou...	BeFree	16261409	Detail
0.005	Unilateral Breast Carcinoma	Three pathogenic BRCA1 mutations (Cys61Gly, 3814del5, 5382insC) were identified ...	BeFree	11556836	Detail
0.360	Malignant neoplasm of breast	Polish women with breast cancer diagnosed at age of 50 or below should be screen...	BeFree	24528374	Detail
0.280	Malignant neoplasm of ovary	Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian...	UNIPROT	12938098	Detail
0.080	breast carcinoma	The missense BRCA1 mutation C61G was associated with a higher odds ratio for bre...	BeFree	15980987	Detail
0.360	Malignant neoplasm of breast	The missense BRCA1 mutation C61G was associated with a higher odds ratio for bre...	BeFree	15980987	Detail
0.080	breast carcinoma	Polish women with breast cancer diagnosed at age of 50 or below should be screen...	BeFree	24528374	Detail
0.360	Malignant neoplasm of breast	Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian...	UNIPROT	12938098	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.181T>G (p.Cys61Gly) AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND Familial cancer of breast	ClinVar	Detail
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND Breast neoplasm	ClinVar	Detail
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND Breast carcinoma	ClinVar	Detail
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND Neoplasm of ovary	ClinVar	Detail
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND Breast and/or ovarian cancer	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Our analysis shows that testing of 4153delA, 5382insC, C61G BRCA1 mutations should be extremely effe...	DisGeNET	Detail
Our analysis shows that testing of 4153delA, 5382insC, C61G BRCA1 mutations should be extremely effe...	DisGeNET	Detail
Three pathogenic BRCA1 mutations (Cys61Gly, 3814del5, 5382insC) were identified in the group of pati...	DisGeNET	Detail
Polish women with breast cancer diagnosed at age of 50 or below should be screened with a panel of s...	DisGeNET	Detail
Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in ...	DisGeNET	Detail
The missense BRCA1 mutation C61G was associated with a higher odds ratio for breast cancer (OR=15) t...	DisGeNET	Detail
The missense BRCA1 mutation C61G was associated with a higher odds ratio for breast cancer (OR=15) t...	DisGeNET	Detail
Polish women with breast cancer diagnosed at age of 50 or below should be screened with a panel of s...	DisGeNET	Detail
Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in ...	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: rs28897672 dbSNP
Genome: hg19
Position: chr17:41,258,504-41,258,504
Variant Type: snv
Reference Allele: A
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8602
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): 119006
Allele Counts in All Race (ExAC): 8
Heterozygous Counts in All Race (ExAC): 8
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 6.722350133606709E-5
Variant (CIViC) (CIViC Variant): C61G
Transcript 1 (CIViC Variant): ENST00000471181.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1238

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