chr17:43095924:T>G Detail (hg38) (BRCA1)

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

Information

Genome

Assembly	Position
hg19	chr17:41,247,941-41,247,941 View the variant detail on this assembly version.
hg38	chr17:43,095,924-43,095,924

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007297.3:c.453-2A>C
	NM_007294.3:c.594-2A>C
	NM_007299.3:c.594-2A>C
	NM_007300.3:c.594-2A>C
	NM_007298.3:c.594-2A>C
Ensemble	ENST00000493795.5:c.453-2A>C
	ENST00000493919.6:c.453-2A>C
	ENST00000494123.6:c.594-2A>C
	ENST00000352993.7:c.594-2A>C
	ENST00000357654.9:c.594-2A>C
	ENST00000461574.2:c.594-2A>C
	ENST00000468300.5:c.594-2A>C
	ENST00000470026.6:c.594-2A>C
	ENST00000471181.7:c.594-2A>C
	ENST00000473961.6:c.545-1064A>C
	ENST00000476777.6:c.591-2A>C
	ENST00000477152.6:c.516-2A>C
	ENST00000478531.6:c.591-2A>C
	ENST00000484087.6:c.548-1064A>C
	ENST00000489037.2:c.516-2A>C
	ENST00000491747.6:c.594-2A>C
	ENST00000497488.2:c.-218-1064A>C
	ENST00000586385.5:c.4+29258A>C
	ENST00000591534.5:c.-43-21403A>C
	ENST00000591849.5:c.-99+29347A>C
	ENST00000618469.2:c.594-2A>C
	ENST00000634433.2:c.548-1064A>C
	ENST00000644379.2:c.594-2A>C
	ENST00000644555.2:c.453-2A>C
	ENST00000700182.1:c.513-2A>C
	ENST00000713676.1:c.594-2A>C

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
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
Benign	2017-06-29	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	germline	Detail
Conflicting interpretations of pathogenicity	2024-01-21	criteria provided, conflicting interpretations	hereditary breast ovarian cancer syndrome	germline	Detail
Conflicting interpretations of pathogenicity	2022-03-09	criteria provided, conflicting interpretations	Hereditary cancer-predisposing syndrome	germline	Detail
Conflicting interpretations of pathogenicity	2018-01-02	criteria provided, conflicting interpretations	not specified	germline	Detail
Benign	2016-04-15	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	germline	Detail
Conflicting interpretations of pathogenicity	2023-06-20	criteria provided, conflicting interpretations	not provided	germline unknown	Detail
Uncertain significance	2020-05-06	criteria provided, single submitter	Breast and/or ovarian cancer	germline	Detail
Pathogenic	2019-09-01	no assertion criteria provided	Breast-ovarian cancer, familial, susceptibility to, 1,hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2019-09-01	no assertion criteria provided	Breast-ovarian cancer, familial, susceptibility to, 1,hereditary breast ovarian cancer syndrome	germline	Detail
Uncertain significance		no assertion criteria provided		unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	Breast-ovarian cancer, familial, susceptibility to, 1	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.594-2A>C AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
NM_007294.4(BRCA1):c.594-2A>C AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.594-2A>C AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.594-2A>C AND not specified	ClinVar	Detail
NM_007294.3(BRCA1):c.[594-2A>C;641A>G] AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
NM_007294.4(BRCA1):c.594-2A>C AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.594-2A>C AND Breast and/or ovarian cancer	ClinVar	Detail
NM_007294.4(BRCA1):c.594-2A>C AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.594-2A>C AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.594-2A>C AND Malignant tumor of breast	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs80358033 dbSNP
Genome: hg38
Position: chr17:43,095,924-43,095,924
Variant Type: snv
Reference Allele: T
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 7982
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): 109096
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.833247781770184E-5

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