chr17:43063917: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	chr17:41,215,934-41,215,934 View the variant detail on this assembly version.
hg38	chr17:43,063,917-43,063,917

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.5109T>G	NP_009225.1:p.Tyr1703Ter
	NM_007299.3:c.1797T>G	NP_009230.2:p.Tyr599Ter
	NM_007300.3:c.5172T>G	NP_009231.2:p.Tyr1724Ter
	NM_007298.3:c.1797T>G	NP_009229.2:p.Tyr599Ter
	NM_007297.3:c.4968T>G	NP_009228.2:p.Tyr1656Ter
Ensemble	ENST00000352993.7:c.1683T>G	ENST00000352993.7:p.Tyr561Ter
	ENST00000357654.9:c.5109T>G	ENST00000357654.9:p.Tyr1703Ter
	ENST00000461574.2:c.5106T>G	ENST00000461574.2:p.Tyr1702Ter
	ENST00000468300.5:c.1797T>G	ENST00000468300.5:p.Tyr599Ter
	ENST00000470026.6:c.5109T>G	ENST00000470026.6:p.Tyr1703Ter
	ENST00000471181.7:c.5172T>G	ENST00000471181.7:p.Tyr1724Ter
	ENST00000473961.6:c.4983T>G	ENST00000473961.6:p.Tyr1661Ter
	ENST00000476777.6:c.5103T>G	ENST00000476777.6:p.Tyr1701Ter
	ENST00000477152.6:c.5031T>G	ENST00000477152.6:p.Tyr1677Ter
	ENST00000478531.6:c.1797T>G	ENST00000478531.6:p.Tyr599Ter
	ENST00000484087.6:c.1671T>G	ENST00000484087.6:p.Tyr557Ter
	ENST00000489037.2:c.5031T>G	ENST00000489037.2:p.Tyr1677Ter
	ENST00000491747.6:c.1797T>G	ENST00000491747.6:p.Tyr599Ter
	ENST00000493795.5:c.4968T>G	ENST00000493795.5:p.Tyr1656Ter
	ENST00000493919.6:c.1659T>G	ENST00000493919.6:p.Tyr553Ter
	ENST00000494123.6:c.5109T>G	ENST00000494123.6:p.Tyr1703Ter
	ENST00000497488.2:c.4221T>G	ENST00000497488.2:p.Tyr1407Ter
	ENST00000586385.5:c.39T>G	ENST00000586385.5:p.Tyr13Ter
	ENST00000591534.5:c.582T>G	ENST00000591534.5:p.Tyr194Ter
	ENST00000591849.5:c.-98-13727T>G
	ENST00000618469.2:c.5109T>G	ENST00000618469.2:p.Tyr1703Ter
	ENST00000634433.2:c.4986T>G	ENST00000634433.2:p.Tyr1662Ter
	ENST00000644379.2:c.5175T>G	ENST00000644379.2:p.Tyr1725Ter
	ENST00000644555.2:c.1659T>G	ENST00000644555.2:p.Tyr553Ter
	ENST00000713676.1:c.5109T>G	ENST00000713676.1:p.Tyr1703Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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	2022-10-17	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2016-09-08	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	germline not applicable unknown	Detail
Pathogenic	2022-12-05	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-12-01	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer 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.5109T>G (p.Tyr1703Ter) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.5109T>G (p.Tyr1703Ter) AND Breast-ovarian cancer, familial, susceptibility to, ...	ClinVar	Detail
NM_007294.4(BRCA1):c.5109T>G (p.Tyr1703Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5109T>G (p.Tyr1703Ter) AND Hereditary breast ovarian cancer 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: rs80356974 dbSNP
Genome: hg38
Position: chr17:43,063,917-43,063,917
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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