chr17:43063903:G>A 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	chr17:41,215,920-41,215,920 View the variant detail on this assembly version.
hg38	chr17:43,063,903-43,063,903

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.5123C>T	NP_009225.1:p.Ala1708Val
	NM_007299.3:c.1811C>T	NP_009230.2:p.Ala604Val
	NM_007300.3:c.5186C>T	NP_009231.2:p.Ala1729Val
	NM_007298.3:c.1811C>T	NP_009229.2:p.Ala604Val
	NM_007297.3:c.4982C>T	NP_009228.2:p.Ala1661Val
Ensemble	ENST00000352993.7:c.1697C>T	ENST00000352993.7:p.Ala566Val
	ENST00000357654.9:c.5123C>T	ENST00000357654.9:p.Ala1708Val
	ENST00000461574.2:c.5120C>T	ENST00000461574.2:p.Ala1707Val
	ENST00000468300.5:c.1811C>T	ENST00000468300.5:p.Ala604Val
	ENST00000470026.6:c.5123C>T	ENST00000470026.6:p.Ala1708Val
	ENST00000471181.7:c.5186C>T	ENST00000471181.7:p.Ala1729Val
	ENST00000473961.6:c.4997C>T	ENST00000473961.6:p.Ala1666Val
	ENST00000476777.6:c.5117C>T	ENST00000476777.6:p.Ala1706Val
	ENST00000477152.6:c.5045C>T	ENST00000477152.6:p.Ala1682Val
	ENST00000478531.6:c.1811C>T	ENST00000478531.6:p.Ala604Val
	ENST00000484087.6:c.1685C>T	ENST00000484087.6:p.Ala562Val
	ENST00000489037.2:c.5045C>T	ENST00000489037.2:p.Ala1682Val
	ENST00000491747.6:c.1811C>T	ENST00000491747.6:p.Ala604Val
	ENST00000493795.5:c.4982C>T	ENST00000493795.5:p.Ala1661Val
	ENST00000493919.6:c.1673C>T	ENST00000493919.6:p.Ala558Val
	ENST00000494123.6:c.5123C>T	ENST00000494123.6:p.Ala1708Val
	ENST00000497488.2:c.4235C>T	ENST00000497488.2:p.Ala1412Val
	ENST00000586385.5:c.53C>T	ENST00000586385.5:p.Ala18Val
	ENST00000591534.5:c.596C>T	ENST00000591534.5:p.Ala199Val
	ENST00000591849.5:c.-98-13713C>T
	ENST00000618469.2:c.5123C>T	ENST00000618469.2:p.Ala1708Val
	ENST00000634433.2:c.5000C>T	ENST00000634433.2:p.Ala1667Val
	ENST00000644379.2:c.5189C>T	ENST00000644379.2:p.Ala1730Val
	ENST00000644555.2:c.1673C>T	ENST00000644555.2:p.Ala558Val
	ENST00000713676.1:c.5123C>T	ENST00000713676.1:p.Ala1708Val

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Uncertain significance
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	COSM6612504	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2023-11-20	criteria provided, multiple submitters, no conflicts	Breast-ovarian cancer, familial, susceptibility to, 1	germline not applicable unknown	Detail
Uncertain significance	2023-12-15	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline	Detail
Uncertain significance	2024-01-18	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2014-06-01	no assertion criteria provided	Breast and/or ovarian cancer	germline	Detail
Uncertain significance	2023-12-28	criteria provided, multiple submitters, no conflicts	not specified	germline	Detail
Uncertain significance	2023-09-26	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Uncertain significance		no assertion criteria provided		unknown	Detail
Uncertain significance		no assertion criteria provided	Familial cancer of breast	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
0.360	Malignant neoplasm of breast	A systematic genetic assessment of 1,433 sequence variants of unknown clinical s...	UNIPROT	17924331	Detail

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val) AND Breast-ovarian cancer, familial, susceptibility to, ...	ClinVar	Detail
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val) AND Breast and/or ovarian cancer	ClinVar	Detail
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val) AND not specified	ClinVar	Detail
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val) AND Malignant tumor of breast	ClinVar	Detail
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val) AND Familial cancer of breast	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the B...	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: rs28897696 dbSNP
Genome: hg38
Position: chr17:43,063,903-43,063,903
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8614
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120626
Allele Counts in All Race (ExAC): 4
Heterozygous Counts in All Race (ExAC): 4
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.316034685722813E-5

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