chr17:43047666:C>T Detail (hg38) (BRCA1)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr17:41,199,683-41,199,683 View the variant detail on this assembly version.
hg38	chr17:43,047,666-43,047,666

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.5444G>A	NP_009225.1:p.Trp1815Ter
	NM_007299.3:c.2058G>A	NP_009230.2:p.Leu686=
	NM_007300.3:c.5507G>A	NP_009231.2:p.Trp1836Ter
	NM_007298.3:c.2132G>A	NP_009229.2:p.Trp711Ter
	NM_007297.3:c.5303G>A	NP_009228.2:p.Trp1768Ter
Ensemble	ENST00000352993.7:c.2018G>A	ENST00000352993.7:p.Trp673Ter
	ENST00000357654.9:c.5444G>A	ENST00000357654.9:p.Trp1815Ter
	ENST00000461574.2:c.5441G>A	ENST00000461574.2:p.Trp1814Ter
	ENST00000468300.5:c.2058G>A	ENST00000468300.5:p.Leu686=
	ENST00000470026.6:c.5444G>A	ENST00000470026.6:p.Trp1815Ter
	ENST00000471181.7:c.5507G>A	ENST00000471181.7:p.Trp1836Ter
	ENST00000473961.6:c.5318G>A	ENST00000473961.6:p.Trp1773Ter
	ENST00000476777.6:c.5438G>A	ENST00000476777.6:p.Trp1813Ter
	ENST00000477152.6:c.5366G>A	ENST00000477152.6:p.Trp1789Ter
	ENST00000478531.6:c.2132G>A	ENST00000478531.6:p.Trp711Ter
	ENST00000484087.6:c.2006G>A	ENST00000484087.6:p.Trp669Ter
	ENST00000489037.2:c.5366G>A	ENST00000489037.2:p.Trp1789Ter
	ENST00000491747.6:c.2132G>A	ENST00000491747.6:p.Trp711Ter
	ENST00000493795.5:c.5303G>A	ENST00000493795.5:p.Trp1768Ter
	ENST00000493919.6:c.1994G>A	ENST00000493919.6:p.Trp665Ter
	ENST00000494123.6:c.5444G>A	ENST00000494123.6:p.Trp1815Ter
	ENST00000497488.2:c.4556G>A	ENST00000497488.2:p.Trp1519Ter
	ENST00000586385.5:c.374G>A	ENST00000586385.5:p.Trp125Ter
	ENST00000591534.5:c.917G>A	ENST00000591534.5:p.Trp306Ter
	ENST00000591849.5:c.143G>A	ENST00000591849.5:p.Trp48Ter
	ENST00000618469.2:c.5444G>A	ENST00000618469.2:p.Trp1815Ter
	ENST00000634433.2:c.5321G>A	ENST00000634433.2:p.Trp1774Ter
	ENST00000644379.2:c.5510G>A	ENST00000644379.2:p.Trp1837Ter
	ENST00000644555.2:c.1994G>A	ENST00000644555.2:p.Trp665Ter
	ENST00000713676.1:c.5444G>A	ENST00000713676.1:p.Trp1815Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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	COSM6906193	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-08-15	criteria provided, multiple submitters, no conflicts	not provided	unknown germline	Detail
Pathogenic	2016-09-08	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	germline not applicable unknown	Detail
Pathogenic	2023-11-28	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-05-25	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline unknown	Detail
Pathogenic		criteria provided, single submitter	Breast neoplasm	germline	Detail
Pathogenic	2020-01-21	criteria provided, single submitter	Breast and/or ovarian cancer	germline	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1,Pancreatic cancer, susceptibility to, 4,Familial cancer of breast,Fanconi anemia, complementation group S	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1,Pancreatic cancer, susceptibility to, 4,Familial cancer of breast,Fanconi anemia, complementation group S	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1,Pancreatic cancer, susceptibility to, 4,Familial cancer of breast,Fanconi anemia, complementation group S	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1,Pancreatic cancer, susceptibility to, 4,Familial cancer of breast,Fanconi anemia, complementation group S	unknown	Detail
Pathogenic	2018-12-01	no assertion criteria provided	Neoplasm of ovary	germline	Detail
Pathogenic		no assertion criteria provided		unknown	Detail
Pathogenic	2021-08-08	no assertion criteria provided	breast carcinoma	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.5444G>A (p.Trp1815Ter) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) AND Breast-ovarian cancer, familial, susceptibility to, ...	ClinVar	Detail
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) AND Breast neoplasm	ClinVar	Detail
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) AND Breast and/or ovarian cancer	ClinVar	Detail
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) AND Neoplasm of ovary	ClinVar	Detail
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) AND Malignant tumor of breast	ClinVar	Detail
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) AND Breast carcinoma	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: rs80356962 dbSNP
Genome: hg38
Position: chr17:43,047,666-43,047,666
Variant Type: snv
Reference Allele: C
Alternative Allele: T

Genome browser