chr17:43057122:A>C Detail (hg38) (BRCA1)

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

Genome

Assembly	Position
hg19	chr17:41,209,139-41,209,139 View the variant detail on this assembly version.
hg38	chr17:43,057,122-43,057,122

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.5207T>G	NP_009225.1:p.Val1736Gly
	NM_007299.3:c.1895T>G	NP_009230.2:p.Val632Gly
	NM_007300.3:c.5270T>G	NP_009231.2:p.Val1757Gly
	NM_007298.3:c.1895T>G	NP_009229.2:p.Val632Gly
	NM_007297.3:c.5066T>G	NP_009228.2:p.Val1689Gly
Ensemble	ENST00000352993.7:c.1781T>G	ENST00000352993.7:p.Val594Gly
	ENST00000357654.9:c.5207T>G	ENST00000357654.9:p.Val1736Gly
	ENST00000461574.2:c.5204T>G	ENST00000461574.2:p.Val1735Gly
	ENST00000468300.5:c.1895T>G	ENST00000468300.5:p.Val632Gly
	ENST00000470026.6:c.5207T>G	ENST00000470026.6:p.Val1736Gly
	ENST00000471181.7:c.5270T>G	ENST00000471181.7:p.Val1757Gly
	ENST00000473961.6:c.5081T>G	ENST00000473961.6:p.Val1694Gly
	ENST00000476777.6:c.5201T>G	ENST00000476777.6:p.Val1734Gly
	ENST00000477152.6:c.5129T>G	ENST00000477152.6:p.Val1710Gly
	ENST00000478531.6:c.1895T>G	ENST00000478531.6:p.Val632Gly
	ENST00000484087.6:c.1769T>G	ENST00000484087.6:p.Val590Gly
	ENST00000489037.2:c.5129T>G	ENST00000489037.2:p.Val1710Gly
	ENST00000491747.6:c.1895T>G	ENST00000491747.6:p.Val632Gly
	ENST00000493795.5:c.5066T>G	ENST00000493795.5:p.Val1689Gly
	ENST00000493919.6:c.1757T>G	ENST00000493919.6:p.Val586Gly
	ENST00000494123.6:c.5207T>G	ENST00000494123.6:p.Val1736Gly
	ENST00000497488.2:c.4319T>G	ENST00000497488.2:p.Val1440Gly
	ENST00000586385.5:c.137T>G	ENST00000586385.5:p.Val46Gly
	ENST00000591534.5:c.680T>G	ENST00000591534.5:p.Val227Gly
	ENST00000591849.5:c.-98-6932T>G
	ENST00000618469.2:c.5207T>G	ENST00000618469.2:p.Val1736Gly
	ENST00000634433.2:c.5084T>G	ENST00000634433.2:p.Val1695Gly
	ENST00000644379.2:c.5273T>G	ENST00000644379.2:p.Val1758Gly
	ENST00000644555.2:c.1757T>G	ENST00000644555.2:p.Val586Gly
	ENST00000713676.1:c.5207T>G	ENST00000713676.1:p.Val1736Gly

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
Uncertain significance	2004-02-20	no assertion criteria provided	Breast-ovarian cancer, familial, susceptibility to, 1	germline not applicable	Detail
Likely pathogenic	2019-04-11	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic Likely pathogenic	2022-03-16	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Benign	2019-09-01	no assertion criteria provided	not specified	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
0.196	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
0.032	Epithelial ovarian cancer	This study describes an individual who was diagnosed with ovarian carcinoma at a...	BeFree	23269703	Detail

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.5207T>G (p.Val1736Gly) AND Breast-ovarian cancer, familial, susceptibility to, ...	ClinVar	Detail
NM_007294.4(BRCA1):c.5207T>G (p.Val1736Gly) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5207T>G (p.Val1736Gly) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5207T>G (p.Val1736Gly) AND not specified	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
This study describes an individual who was diagnosed with ovarian carcinoma at age 28 and found to h...	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: rs45553935 dbSNP
Genome: hg38
Position: chr17:43,057,122-43,057,122
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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