chr17:43051071: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	chr17:41,203,088-41,203,088 View the variant detail on this assembly version.
hg38	chr17:43,051,071-43,051,071

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.5324T>G	NP_009225.1:p.Met1775Arg
	NM_007299.3:c.2012T>G	NP_009230.2:p.Met671Arg
	NM_007300.3:c.5387T>G	NP_009231.2:p.Met1796Arg
	NM_007298.3:c.2012T>G	NP_009229.2:p.Met671Arg
	NM_007297.3:c.5183T>G	NP_009228.2:p.Met1728Arg
Ensemble	ENST00000352993.7:c.1898T>G	ENST00000352993.7:p.Met633Arg
	ENST00000357654.9:c.5324T>G	ENST00000357654.9:p.Met1775Arg
	ENST00000461574.2:c.5321T>G	ENST00000461574.2:p.Met1774Arg
	ENST00000468300.5:c.2012T>G	ENST00000468300.5:p.Met671Arg
	ENST00000470026.6:c.5324T>G	ENST00000470026.6:p.Met1775Arg
	ENST00000471181.7:c.5387T>G	ENST00000471181.7:p.Met1796Arg
	ENST00000473961.6:c.5198T>G	ENST00000473961.6:p.Met1733Arg
	ENST00000476777.6:c.5318T>G	ENST00000476777.6:p.Met1773Arg
	ENST00000477152.6:c.5246T>G	ENST00000477152.6:p.Met1749Arg
	ENST00000478531.6:c.2012T>G	ENST00000478531.6:p.Met671Arg
	ENST00000484087.6:c.1886T>G	ENST00000484087.6:p.Met629Arg
	ENST00000489037.2:c.5246T>G	ENST00000489037.2:p.Met1749Arg
	ENST00000491747.6:c.2012T>G	ENST00000491747.6:p.Met671Arg
	ENST00000493795.5:c.5183T>G	ENST00000493795.5:p.Met1728Arg
	ENST00000493919.6:c.1874T>G	ENST00000493919.6:p.Met625Arg
	ENST00000494123.6:c.5324T>G	ENST00000494123.6:p.Met1775Arg
	ENST00000497488.2:c.4436T>G	ENST00000497488.2:p.Met1479Arg
	ENST00000586385.5:c.254T>G	ENST00000586385.5:p.Met85Arg
	ENST00000591534.5:c.797T>G	ENST00000591534.5:p.Met266Arg
	ENST00000591849.5:c.-98-881T>G
	ENST00000618469.2:c.5324T>G	ENST00000618469.2:p.Met1775Arg
	ENST00000634433.2:c.5201T>G	ENST00000634433.2:p.Met1734Arg
	ENST00000644379.2:c.5390T>G	ENST00000644379.2:p.Met1797Arg
	ENST00000644555.2:c.1874T>G	ENST00000644555.2:p.Met625Arg
	ENST00000713676.1:c.5324T>G	ENST00000713676.1:p.Met1775Arg

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	2015-08-10	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	germline not applicable unknown	Detail
Pathogenic	2022-05-20	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2024-01-04	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-12-27	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2017-11-06	criteria provided, single submitter	Breast and/or ovarian cancer	germline	Detail
Pathogenic	2024-03-28	criteria provided, single submitter	BRCA1-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	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

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg) AND Breast-ovarian cancer, familial, susceptibility to, ...	ClinVar	Detail
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg) AND Breast and/or ovarian cancer	ClinVar	Detail
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg) AND BRCA1-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	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: rs41293463 dbSNP
Genome: hg38
Position: chr17:43,051,071-43,051,071
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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