chr17:43092597:A>C 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	chr17:41,244,614-41,244,614 View the variant detail on this assembly version.
hg38	chr17:43,092,597-43,092,597

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.2934T>G	NP_009225.1:p.Tyr978Ter
	NM_007299.3:c.788-1565T>G
	NM_007300.3:c.2934T>G	NP_009231.2:p.Tyr978Ter
	NM_007298.3:c.788-1565T>G
	NM_007297.3:c.2793T>G	NP_009228.2:p.Tyr931Ter
Ensemble	ENST00000352993.7:c.671-1565T>G
	ENST00000357654.9:c.2934T>G	ENST00000357654.9:p.Tyr978Ter
	ENST00000461574.2:c.2934T>G	ENST00000461574.2:p.Tyr978Ter
	ENST00000468300.5:c.788-1565T>G
	ENST00000470026.6:c.2934T>G	ENST00000470026.6:p.Tyr978Ter
	ENST00000471181.7:c.2934T>G	ENST00000471181.7:p.Tyr978Ter
	ENST00000473961.6:c.2808T>G	ENST00000473961.6:p.Tyr936Ter
	ENST00000476777.6:c.2931T>G	ENST00000476777.6:p.Tyr977Ter
	ENST00000477152.6:c.2856T>G	ENST00000477152.6:p.Tyr952Ter
	ENST00000478531.6:c.785-1565T>G
	ENST00000484087.6:c.665-1565T>G
	ENST00000489037.2:c.2856T>G	ENST00000489037.2:p.Tyr952Ter
	ENST00000491747.6:c.788-1565T>G
	ENST00000493795.5:c.2793T>G	ENST00000493795.5:p.Tyr931Ter
	ENST00000493919.6:c.647-1565T>G
	ENST00000494123.6:c.2934T>G	ENST00000494123.6:p.Tyr978Ter
	ENST00000497488.2:c.2046T>G	ENST00000497488.2:p.Tyr682Ter
	ENST00000586385.5:c.5-28646T>G
	ENST00000591534.5:c.-43-18076T>G
	ENST00000591849.5:c.-99+32674T>G
	ENST00000618469.2:c.2934T>G	ENST00000618469.2:p.Tyr978Ter
	ENST00000634433.2:c.2811T>G	ENST00000634433.2:p.Tyr937Ter
	ENST00000644379.2:c.2934T>G	ENST00000644379.2:p.Tyr978Ter
	ENST00000644555.2:c.647-1565T>G
	ENST00000700182.1:c.707-1565T>G
	ENST00000713676.1:c.2934T>G	ENST00000713676.1:p.Tyr978Ter

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	2016-09-08	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	unknown germline	Detail
Pathogenic	2023-04-13	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2022-01-24	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2024-01-21	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	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
0.196	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
0.002	uterine corpus cancer	Unselected Jewish women with EC who were diagnosed from January 1982 to January ...	BeFree	20850175	Detail
0.012	Malignant neoplasm of endometrium	Unselected Jewish women with EC who were diagnosed from January 1982 to January ...	BeFree	20850175	Detail
0.143	endometrial carcinoma	Unselected Jewish women with EC who were diagnosed from January 1982 to January ...	BeFree	20850175	Detail
0.012	uterine corpus cancer	Unselected Jewish women with EC who were diagnosed from January 1982 to January ...	BeFree	20850175	Detail
0.031	endometrial carcinoma	Unselected Jewish women with EC who were diagnosed from January 1982 to January ...	BeFree	20850175	Detail
0.002	endometrial carcinoma	Unselected Jewish women with EC who were diagnosed from January 1982 to January ...	BeFree	20850175	Detail
0.009	uterine corpus cancer	Unselected Jewish women with EC who were diagnosed from January 1982 to January ...	BeFree	20850175	Detail
0.009	Malignant neoplasm of endometrium	Unselected Jewish women with EC who were diagnosed from January 1982 to January ...	BeFree	20850175	Detail
0.002	Malignant neoplasm of endometrium	Unselected Jewish women with EC who were diagnosed from January 1982 to January ...	BeFree	20850175	Detail

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter) AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter) AND Malignant tumor of breast	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ...	DisGeNET	Detail
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ...	DisGeNET	Detail
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ...	DisGeNET	Detail
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ...	DisGeNET	Detail
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ...	DisGeNET	Detail
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ...	DisGeNET	Detail
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ...	DisGeNET	Detail
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ...	DisGeNET	Detail
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ...	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: rs80357115 dbSNP
Genome: hg38
Position: chr17:43,092,597-43,092,597
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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