chr17:43057122:A>G 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>C	NP_009225.1:p.Val1736Ala
	NM_007299.3:c.1895T>C	NP_009230.2:p.Val632Ala
	NM_007300.3:c.5270T>C	NP_009231.2:p.Val1757Ala
	NM_007298.3:c.1895T>C	NP_009229.2:p.Val632Ala
	NM_007297.3:c.5066T>C	NP_009228.2:p.Val1689Ala
Ensemble	ENST00000352993.7:c.1781T>C	ENST00000352993.7:p.Val594Ala
	ENST00000357654.9:c.5207T>C	ENST00000357654.9:p.Val1736Ala
	ENST00000461574.2:c.5204T>C	ENST00000461574.2:p.Val1735Ala
	ENST00000468300.5:c.1895T>C	ENST00000468300.5:p.Val632Ala
	ENST00000470026.6:c.5207T>C	ENST00000470026.6:p.Val1736Ala
	ENST00000471181.7:c.5270T>C	ENST00000471181.7:p.Val1757Ala
	ENST00000473961.6:c.5081T>C	ENST00000473961.6:p.Val1694Ala
	ENST00000476777.6:c.5201T>C	ENST00000476777.6:p.Val1734Ala
	ENST00000477152.6:c.5129T>C	ENST00000477152.6:p.Val1710Ala
	ENST00000478531.6:c.1895T>C	ENST00000478531.6:p.Val632Ala
	ENST00000484087.6:c.1769T>C	ENST00000484087.6:p.Val590Ala
	ENST00000489037.2:c.5129T>C	ENST00000489037.2:p.Val1710Ala
	ENST00000491747.6:c.1895T>C	ENST00000491747.6:p.Val632Ala
	ENST00000493795.5:c.5066T>C	ENST00000493795.5:p.Val1689Ala
	ENST00000493919.6:c.1757T>C	ENST00000493919.6:p.Val586Ala
	ENST00000494123.6:c.5207T>C	ENST00000494123.6:p.Val1736Ala
	ENST00000497488.2:c.4319T>C	ENST00000497488.2:p.Val1440Ala
	ENST00000586385.5:c.137T>C	ENST00000586385.5:p.Val46Ala
	ENST00000591534.5:c.680T>C	ENST00000591534.5:p.Val227Ala
	ENST00000591849.5:c.-98-6932T>C
	ENST00000618469.2:c.5207T>C	ENST00000618469.2:p.Val1736Ala
	ENST00000634433.2:c.5084T>C	ENST00000634433.2:p.Val1695Ala
	ENST00000644379.2:c.5273T>C	ENST00000644379.2:p.Val1758Ala
	ENST00000644555.2:c.1757T>C	ENST00000644555.2:p.Val586Ala
	ENST00000713676.1:c.5207T>C	ENST00000713676.1:p.Val1736Ala

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	2019-06-25	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	germline not applicable unknown	Detail
Pathogenic Likely pathogenic	2024-02-06	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2023-10-20	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic Likely pathogenic	2024-01-21	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2013-04-01	no assertion criteria provided	Fanconi anemia, complementation group S	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>C (p.Val1736Ala) AND Breast-ovarian cancer, familial, susceptibility to, ...	ClinVar	Detail
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) AND Fanconi anemia, complementation group S	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: G

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