chr17:41223094:T>A 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	chr17:41,223,094-41,223,094
hg38	chr17:43,071,077-43,071,077 View the variant detail on this assembly version.

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007298.3:c.1525A>T	NP_009229.2:p.Ser509Cys
	NM_007299.3:c.1525A>T	NP_009230.2:p.Ser509Cys
	NM_007297.3:c.4696A>T	NP_009228.2:p.Ser1566Cys
	NM_007294.3:c.4837A>T	NP_009225.1:p.Ser1613Cys
	NM_007300.3:c.4900A>T	NP_009231.2:p.Ser1634Cys
Ensemble	ENST00000591849.5:c.-98-20887A>T
	ENST00000634433.2:c.4714A>T	ENST00000634433.2:p.Ser1572Cys
	ENST00000491747.6:c.1525A>T	ENST00000491747.6:p.Ser509Cys
	ENST00000470026.6:c.4837A>T	ENST00000470026.6:p.Ser1613Cys
	ENST00000618469.2:c.4837A>T	ENST00000618469.2:p.Ser1613Cys
	ENST00000586385.5:c.5-7126A>T
	ENST00000644379.2:c.4903A>T	ENST00000644379.2:p.Ser1635Cys
	ENST00000713676.1:c.4837A>T	ENST00000713676.1:p.Ser1613Cys
	ENST00000476777.6:c.4831A>T	ENST00000476777.6:p.Ser1611Cys
	ENST00000700182.1:c.1444A>T	ENST00000700182.1:p.Ser482Cys
	ENST00000489037.2:c.4759A>T	ENST00000489037.2:p.Ser1587Cys
	ENST00000477152.6:c.4759A>T	ENST00000477152.6:p.Ser1587Cys
	ENST00000644555.2:c.1387A>T	ENST00000644555.2:p.Ser463Cys
	ENST00000468300.5:c.1525A>T	ENST00000468300.5:p.Ser509Cys
	ENST00000473961.6:c.4711A>T	ENST00000473961.6:p.Ser1571Cys
	ENST00000493795.5:c.4696A>T	ENST00000493795.5:p.Ser1566Cys
	ENST00000478531.6:c.1525A>T	ENST00000478531.6:p.Ser509Cys
	ENST00000484087.6:c.1399A>T	ENST00000484087.6:p.Ser467Cys
	ENST00000494123.6:c.4837A>T	ENST00000494123.6:p.Ser1613Cys
	ENST00000461574.2:c.4834A>T	ENST00000461574.2:p.Ser1612Cys
	ENST00000357654.9:c.4837A>T	ENST00000357654.9:p.Ser1613Cys
	ENST00000497488.2:c.3949A>T	ENST00000497488.2:p.Ser1317Cys
	ENST00000471181.7:c.4900A>T	ENST00000471181.7:p.Ser1634Cys
	ENST00000591534.5:c.310A>T	ENST00000591534.5:p.Ser104Cys
	ENST00000493919.6:c.1387A>T	ENST00000493919.6:p.Ser463Cys
	ENST00000352993.7:c.1411A>T	ENST00000352993.7:p.Ser471Cys

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	Benign Likely benign
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
Conflicting interpretations of pathogenicity	2011-11-14	no assertion criteria provided	Breast-ovarian cancer, familial, susceptibility to, 1	germline	Detail
Benign Likely benign	2024-03-11	criteria provided, multiple submitters, no conflicts	not specified	germline unknown	Detail
Likely benign	2021-07-07	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Likely benign	2020-12-18	criteria provided, single submitter	not provided	germline	Detail
Likely benign	2024-01-21	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail
Likely benign		no assertion criteria provided		unknown	Detail
Likely benign	2021-10-01	criteria provided, single submitter	BRCA1-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.042	breast carcinoma	We aimed to determine the associations of genetic polymorphisms of excision repa...	BeFree	24933103	Detail
0.005	Non-small cell lung carcinoma	We aimed to determine the associations of genetic polymorphisms of excision repa...	BeFree	24933103	Detail
0.012	Non-small cell lung carcinoma	We aimed to determine the associations of genetic polymorphisms of excision repa...	BeFree	24933103	Detail
0.002	Xeroderma Pigmentosum, Complementation Group D	We aimed to determine the associations of genetic polymorphisms of excision repa...	BeFree	24933103	Detail
0.098	Malignant neoplasm of breast	We aimed to determine the associations of genetic polymorphisms of excision repa...	BeFree	24933103	Detail
0.080	breast carcinoma	We aimed to determine the associations of genetic polymorphisms of excision repa...	BeFree	24933103	Detail
0.018	Malignant neoplasm of breast	We aimed to determine the associations of genetic polymorphisms of excision repa...	BeFree	24933103	Detail
0.005	Non-small cell lung carcinoma	We aimed to determine the associations of genetic polymorphisms of excision repa...	BeFree	24933103	Detail
0.084	Malignant neoplasm of breast	We aimed to determine the associations of genetic polymorphisms of excision repa...	BeFree	24933103	Detail
0.018	breast carcinoma	We aimed to determine the associations of genetic polymorphisms of excision repa...	BeFree	24933103	Detail
0.011	breast carcinoma	We aimed to determine the associations of genetic polymorphisms of excision repa...	BeFree	24933103	Detail
0.360	Malignant neoplasm of breast	We aimed to determine the associations of genetic polymorphisms of excision repa...	BeFree	24933103	Detail
0.097	Malignant neoplasm of breast	We aimed to determine the associations of genetic polymorphisms of excision repa...	BeFree	24933103	Detail
0.085	Malignant neoplasm of breast	We aimed to determine the associations of genetic polymorphisms of excision repa...	BeFree	24933103	Detail
0.008	breast carcinoma	We aimed to determine the associations of genetic polymorphisms of excision repa...	BeFree	24933103	Detail
0.006	breast carcinoma	We aimed to determine the associations of genetic polymorphisms of excision repa...	BeFree	24933103	Detail
0.009	Non-small cell lung carcinoma	Survival analyses indicated that BRCA1 rs1799966 TC+CC genotypes were associated...	BeFree	24933103	Detail

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.4837A>T (p.Ser1613Cys) AND Breast-ovarian cancer, familial, susceptibility to, ...	ClinVar	Detail
NM_007294.4(BRCA1):c.4837A>T (p.Ser1613Cys) AND not specified	ClinVar	Detail
NM_007294.4(BRCA1):c.4837A>T (p.Ser1613Cys) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.4837A>T (p.Ser1613Cys) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.4837A>T (p.Ser1613Cys) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.4837A>T (p.Ser1613Cys) AND Malignant tumor of breast	ClinVar	Detail
NM_007294.4(BRCA1):c.4837A>T (p.Ser1613Cys) AND BRCA1-related disorder	ClinVar	Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa...	DisGeNET	Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa...	DisGeNET	Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa...	DisGeNET	Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa...	DisGeNET	Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa...	DisGeNET	Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa...	DisGeNET	Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa...	DisGeNET	Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa...	DisGeNET	Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa...	DisGeNET	Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa...	DisGeNET	Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa...	DisGeNET	Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa...	DisGeNET	Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa...	DisGeNET	Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa...	DisGeNET	Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa...	DisGeNET	Detail
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa...	DisGeNET	Detail
Survival analyses indicated that BRCA1 rs1799966 TC+CC genotypes were associated with a decreased ri...	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: rs1799966 dbSNP
Genome: hg19
Position: chr17:41,223,094-41,223,094
Variant Type: snv
Reference Allele: T
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): 121360
Allele Counts in All Race (ExAC): 8
Heterozygous Counts in All Race (ExAC): 5
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 6.591957811470006E-5

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