chr17:41201191:G>A Detail (hg19) (BRCA1)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr17:41,201,191-41,201,191
hg38	chr17:43,049,174-43,049,174 View the variant detail on this assembly version.

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007298.3:c.2041C>T	NP_009229.2:p.Gln681Ter
	NM_007297.3:c.5212C>T	NP_009228.2:p.Gln1738Ter
	NM_007299.3:c.2021-1471C>T
	NM_007300.3:c.5416C>T	NP_009231.2:p.Gln1806Ter
	NM_007294.3:c.5353C>T	NP_009225.1:p.Gln1785Ter
Ensemble	ENST00000713676.1:c.5353C>T	ENST00000713676.1:p.Gln1785Ter
	ENST00000644379.2:c.5419C>T	ENST00000644379.2:p.Gln1807Ter
	ENST00000586385.5:c.283C>T	ENST00000586385.5:p.Gln95Ter
	ENST00000618469.2:c.5353C>T	ENST00000618469.2:p.Gln1785Ter
	ENST00000470026.6:c.5353C>T	ENST00000470026.6:p.Gln1785Ter
	ENST00000491747.6:c.2041C>T	ENST00000491747.6:p.Gln681Ter
	ENST00000634433.2:c.5230C>T	ENST00000634433.2:p.Gln1744Ter
	ENST00000591849.5:c.52C>T	ENST00000591849.5:p.Gln18Ter
	ENST00000489037.2:c.5275C>T	ENST00000489037.2:p.Gln1759Ter
	ENST00000476777.6:c.5347C>T	ENST00000476777.6:p.Gln1783Ter
	ENST00000484087.6:c.1915C>T	ENST00000484087.6:p.Gln639Ter
	ENST00000494123.6:c.5353C>T	ENST00000494123.6:p.Gln1785Ter
	ENST00000478531.6:c.2041C>T	ENST00000478531.6:p.Gln681Ter
	ENST00000493795.5:c.5212C>T	ENST00000493795.5:p.Gln1738Ter
	ENST00000473961.6:c.5227C>T	ENST00000473961.6:p.Gln1743Ter
	ENST00000468300.5:c.2021-1471C>T
	ENST00000644555.2:c.1903C>T	ENST00000644555.2:p.Gln635Ter
	ENST00000477152.6:c.5275C>T	ENST00000477152.6:p.Gln1759Ter
	ENST00000352993.7:c.1927C>T	ENST00000352993.7:p.Gln643Ter
	ENST00000493919.6:c.1903C>T	ENST00000493919.6:p.Gln635Ter
	ENST00000591534.5:c.826C>T	ENST00000591534.5:p.Gln276Ter
	ENST00000471181.7:c.5416C>T	ENST00000471181.7:p.Gln1806Ter
	ENST00000497488.2:c.4465C>T	ENST00000497488.2:p.Gln1489Ter
	ENST00000357654.9:c.5353C>T	ENST00000357654.9:p.Gln1785Ter
	ENST00000461574.2:c.5350C>T	ENST00000461574.2:p.Gln1784Ter

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-12-06	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2016-09-08	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	germline not applicable unknown	Detail
Pathogenic	2023-06-30	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2022-02-24	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
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
0.420	Hereditary Breast and Ovarian Cancer Syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.5353C>T (p.Gln1785Ter) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5353C>T (p.Gln1785Ter) AND Breast-ovarian cancer, familial, susceptibility to, ...	ClinVar	Detail
NM_007294.4(BRCA1):c.5353C>T (p.Gln1785Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5353C>T (p.Gln1785Ter) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.5353C>T (p.Gln1785Ter) AND Malignant tumor of breast	ClinVar	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: rs80356969 dbSNP
Genome: hg19
Position: chr17:41,201,191-41,201,191
Variant Type: snv
Reference Allele: G
Alternative Allele: A

Genome browser