chr17:41222942:C>G Detail (hg19) (BRCA1)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr17:41,222,942-41,222,942
hg38	chr17:43,070,925-43,070,925 View the variant detail on this assembly version.

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.4986+3G>C
	NM_007300.3:c.5049+3G>C
	NM_007297.3:c.4845+3G>C
	NM_007299.3:c.1674+3G>C
	NM_007298.3:c.1674+3G>C
Ensemble	ENST00000493919.6:c.1536+3G>C
	ENST00000352993.7:c.1560+3G>C
	ENST00000357654.9:c.4986+3G>C
	ENST00000461574.2:c.4983+3G>C
	ENST00000471181.7:c.5049+3G>C
	ENST00000497488.2:c.4098+3G>C
	ENST00000591534.5:c.459+3G>C
	ENST00000493795.5:c.4845+3G>C
	ENST00000484087.6:c.1548+3G>C
	ENST00000494123.6:c.4986+3G>C
	ENST00000478531.6:c.1674+3G>C
	ENST00000477152.6:c.4908+3G>C
	ENST00000473961.6:c.4860+3G>C
	ENST00000644555.2:c.1536+3G>C
	ENST00000468300.5:c.1674+3G>C
	ENST00000489037.2:c.4908+3G>C
	ENST00000476777.6:c.4980+3G>C
	ENST00000700182.1:c.1596G>C	ENST00000700182.1:p.Val532=
	ENST00000470026.6:c.4986+3G>C
	ENST00000491747.6:c.1674+3G>C
	ENST00000586385.5:c.5-6974G>C
	ENST00000618469.2:c.4986+3G>C
	ENST00000713676.1:c.4986+3G>C
	ENST00000644379.2:c.5052+3G>C
	ENST00000591849.5:c.-98-20735G>C
	ENST00000634433.2:c.4863+3G>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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	2023-11-13	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	unknown germline	Detail
Pathogenic Likely pathogenic	2022-08-11	criteria provided, multiple submitters, no conflicts	Breast-ovarian cancer, familial, susceptibility to, 1	germline not applicable unknown	Detail
Pathogenic Likely pathogenic	2023-01-10	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic Likely pathogenic	2023-01-01	criteria provided, multiple submitters, no conflicts	not provided	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
Likely pathogenic		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.4986+3G>C AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.4986+3G>C AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
NM_007294.4(BRCA1):c.4986+3G>C AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.4986+3G>C AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.4986+3G>C AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.4986+3G>C AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.4986+3G>C AND Malignant tumor of breast	ClinVar	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: rs80358023 dbSNP
Genome: hg19
Position: chr17:41,222,942-41,222,942
Variant Type: snv
Reference Allele: C
Alternative Allele: G

Genome browser