chr17:41246335:ATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACAG> 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	chr17:41,246,335-41,246,374
hg38	chr17:43,094,318-43,094,357

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007300.3:c.1174_1213delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT	NP_009231.2:p.Leu392GlnfsTer5
	NM_007294.3:c.1174_1213delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT	NP_009225.1:p.Leu392GlnfsTer5
	NM_007297.3:c.1033_1072delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT	NP_009228.2:p.Leu345GlnfsTer5
	NM_007299.3:c.787+387_787+426delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT
	NM_007298.3:c.787+387_787+426delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT
Ensemble	ENST00000352993.7:c.670+1489_670+1528delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT
	ENST00000493919.6:c.646+387_646+426delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT
	ENST00000471181.7:c.1174_1213delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT	ENST00000471181.7:p.Leu392GlnfsTer5
	ENST00000497488.2:c.286_325delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT	ENST00000497488.2:p.Leu96GlnfsTer5
	ENST00000591534.5:c.-43-19797_-43-19836delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT
	ENST00000357654.9:c.1174_1213delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT	ENST00000357654.9:p.Leu392GlnfsTer5
	ENST00000461574.2:c.1174_1213delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT	ENST00000461574.2:p.Leu392GlnfsTer5
	ENST00000484087.6:c.664+387_664+426delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT
	ENST00000494123.6:c.1174_1213delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT	ENST00000494123.6:p.Leu392GlnfsTer5
	ENST00000478531.6:c.784+387_784+426delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT
	ENST00000493795.5:c.1033_1072delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT	ENST00000493795.5:p.Leu345GlnfsTer5
	ENST00000473961.6:c.1048_1087delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT	ENST00000473961.6:p.Leu350GlnfsTer5
	ENST00000644555.2:c.646+387_646+426delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT
	ENST00000468300.5:c.787+387_787+426delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT
	ENST00000477152.6:c.1096_1135delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT	ENST00000477152.6:p.Leu366GlnfsTer5
	ENST00000489037.2:c.1096_1135delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT	ENST00000489037.2:p.Leu366GlnfsTer5
	ENST00000476777.6:c.1171_1210delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT	ENST00000476777.6:p.Leu391GlnfsTer5
	ENST00000700182.1:c.706+387_706+426delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT
	ENST00000713676.1:c.1174_1213delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT	ENST00000713676.1:p.Leu392GlnfsTer5
	ENST00000644379.2:c.1174_1213delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT	ENST00000644379.2:p.Leu392GlnfsTer5
	ENST00000470026.6:c.1174_1213delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT	ENST00000470026.6:p.Leu392GlnfsTer5
	ENST00000491747.6:c.787+387_787+426delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT
	ENST00000586385.5:c.5-30406_5-30367delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT
	ENST00000618469.2:c.1174_1213delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT	ENST00000618469.2:p.Leu392GlnfsTer5
	ENST00000634433.2:c.1051_1090delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT	ENST00000634433.2:p.Leu351GlnfsTer5
	ENST00000591849.5:c.-99+30953_-99+30914delCTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAAT

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	2016-04-22	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	unknown germline	Detail
Pathogenic	2023-12-31	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2023-12-04	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2022-11-18	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2018-12-04	criteria provided, multiple submitters, no conflicts	not specified	germline	Detail
Pathogenic		no assertion criteria provided		unknown	Detail
Pathogenic	2021-04-03	criteria provided, single submitter	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.1175_1214del (p.Leu392fs) AND Breast-ovarian cancer, familial, susceptibility t...	ClinVar	Detail
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) AND not specified	ClinVar	Detail
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) AND Malignant tumor of breast	ClinVar	Detail
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) 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: rs80359874 dbSNP
Genome: hg19
Position: chr17:41,246,335-41,246,374
Variant Type: snv
Reference Allele: ATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACAG
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 8654
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): 121238
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.248239000973292E-6

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