chr17:43092896:C>A 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	chr17:41,244,913-41,244,913 View the variant detail on this assembly version.
hg38	chr17:43,092,896-43,092,896

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.2635G>T	NP_009225.1:p.Glu879Ter
	NM_007299.3:c.787+1848G>T
	NM_007300.3:c.2635G>T	NP_009231.2:p.Glu879Ter
	NM_007298.3:c.787+1848G>T
	NM_007297.3:c.2494G>T	NP_009228.2:p.Glu832Ter
Ensemble	ENST00000352993.7:c.671-1864G>T
	ENST00000357654.9:c.2635G>T	ENST00000357654.9:p.Glu879Ter
	ENST00000461574.2:c.2635G>T	ENST00000461574.2:p.Glu879Ter
	ENST00000468300.5:c.787+1848G>T
	ENST00000470026.6:c.2635G>T	ENST00000470026.6:p.Glu879Ter
	ENST00000471181.7:c.2635G>T	ENST00000471181.7:p.Glu879Ter
	ENST00000473961.6:c.2509G>T	ENST00000473961.6:p.Glu837Ter
	ENST00000476777.6:c.2632G>T	ENST00000476777.6:p.Glu878Ter
	ENST00000477152.6:c.2557G>T	ENST00000477152.6:p.Glu853Ter
	ENST00000478531.6:c.784+1848G>T
	ENST00000484087.6:c.664+1848G>T
	ENST00000489037.2:c.2557G>T	ENST00000489037.2:p.Glu853Ter
	ENST00000491747.6:c.787+1848G>T
	ENST00000493795.5:c.2494G>T	ENST00000493795.5:p.Glu832Ter
	ENST00000493919.6:c.646+1848G>T
	ENST00000494123.6:c.2635G>T	ENST00000494123.6:p.Glu879Ter
	ENST00000497488.2:c.1747G>T	ENST00000497488.2:p.Glu583Ter
	ENST00000586385.5:c.5-28945G>T
	ENST00000591534.5:c.-43-18375G>T
	ENST00000591849.5:c.-99+32375G>T
	ENST00000618469.2:c.2635G>T	ENST00000618469.2:p.Glu879Ter
	ENST00000634433.2:c.2512G>T	ENST00000634433.2:p.Glu838Ter
	ENST00000644379.2:c.2635G>T	ENST00000644379.2:p.Glu879Ter
	ENST00000644555.2:c.646+1848G>T
	ENST00000700182.1:c.706+1848G>T
	ENST00000713676.1:c.2635G>T	ENST00000713676.1:p.Glu879Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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	2016-09-08	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	germline not provided somatic	Detail
Pathogenic	2023-12-30	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail
Likely pathogenic	2015-09-29	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2020-01-15	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2017-01-23	criteria provided, single submitter	Breast and/or ovarian cancer	germline	Detail
Pathogenic		no assertion criteria provided	Familial cancer of breast	germline	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.2635G>T (p.Glu879Ter) AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
NM_007294.4(BRCA1):c.2635G>T (p.Glu879Ter) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.2635G>T (p.Glu879Ter) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.2635G>T (p.Glu879Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.2635G>T (p.Glu879Ter) AND Breast and/or ovarian cancer	ClinVar	Detail
NM_007294.4(BRCA1):c.2635G>T (p.Glu879Ter) AND Familial cancer 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: rs80357251 dbSNP
Genome: hg38
Position: chr17:43,092,896-43,092,896
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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