chr17:41203088:A>T Detail (hg19) (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
hg38	chr17:43,051,071-43,051,071 View the variant detail on this assembly version.

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007300.3:c.5387T>A	NP_009231.2:p.Met1796Lys
	NM_007294.3:c.5324T>A	NP_009225.1:p.Met1775Lys
	NM_007297.3:c.5183T>A	NP_009228.2:p.Met1728Lys
	NM_007299.3:c.2012T>A	NP_009230.2:p.Met671Lys
	NM_007298.3:c.2012T>A	NP_009229.2:p.Met671Lys
Ensemble	ENST00000352993.7:c.1898T>A	ENST00000352993.7:p.Met633Lys
	ENST00000493919.6:c.1874T>A	ENST00000493919.6:p.Met625Lys
	ENST00000591534.5:c.797T>A	ENST00000591534.5:p.Met266Lys
	ENST00000471181.7:c.5387T>A	ENST00000471181.7:p.Met1796Lys
	ENST00000497488.2:c.4436T>A	ENST00000497488.2:p.Met1479Lys
	ENST00000357654.9:c.5324T>A	ENST00000357654.9:p.Met1775Lys
	ENST00000461574.2:c.5321T>A	ENST00000461574.2:p.Met1774Lys
	ENST00000484087.6:c.1886T>A	ENST00000484087.6:p.Met629Lys
	ENST00000494123.6:c.5324T>A	ENST00000494123.6:p.Met1775Lys
	ENST00000478531.6:c.2012T>A	ENST00000478531.6:p.Met671Lys
	ENST00000493795.5:c.5183T>A	ENST00000493795.5:p.Met1728Lys
	ENST00000473961.6:c.5198T>A	ENST00000473961.6:p.Met1733Lys
	ENST00000644555.2:c.1874T>A	ENST00000644555.2:p.Met625Lys
	ENST00000468300.5:c.2012T>A	ENST00000468300.5:p.Met671Lys
	ENST00000477152.6:c.5246T>A	ENST00000477152.6:p.Met1749Lys
	ENST00000489037.2:c.5246T>A	ENST00000489037.2:p.Met1749Lys
	ENST00000476777.6:c.5318T>A	ENST00000476777.6:p.Met1773Lys
	ENST00000713676.1:c.5324T>A	ENST00000713676.1:p.Met1775Lys
	ENST00000644379.2:c.5390T>A	ENST00000644379.2:p.Met1797Lys
	ENST00000586385.5:c.254T>A	ENST00000586385.5:p.Met85Lys
	ENST00000618469.2:c.5324T>A	ENST00000618469.2:p.Met1775Lys
	ENST00000470026.6:c.5324T>A	ENST00000470026.6:p.Met1775Lys
	ENST00000491747.6:c.2012T>A	ENST00000491747.6:p.Met671Lys
	ENST00000634433.2:c.5201T>A	ENST00000634433.2:p.Met1734Lys
	ENST00000591849.5:c.-98-881T>A

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	not applicable germline	Detail
Pathogenic	2014-01-31	no assertion criteria provided	hereditary breast ovarian cancer syndrome	germline	Detail
Likely pathogenic	2020-09-15	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	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>A (p.Met1775Lys) AND Breast-ovarian cancer, familial, susceptibility to, ...	ClinVar	Detail
NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys) AND Hereditary cancer-predisposing syndrome	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: hg19
Position: chr17:41,203,088-41,203,088
Variant Type: snv
Reference Allele: A
Alternative Allele: T

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