chr17:43093454:C>T Detail (hg38) (BRCA1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr17:41,245,471-41,245,471 View the variant detail on this assembly version.
hg38	chr17:43,093,454-43,093,454

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.2077G>A	NP_009225.1:p.Asp693Asn
	NM_007299.3:c.787+1290G>A
	NM_007300.3:c.2077G>A	NP_009231.2:p.Asp693Asn
	NM_007298.3:c.787+1290G>A
	NM_007297.3:c.1936G>A	NP_009228.2:p.Asp646Asn
Ensemble	ENST00000352993.7:c.670+2392G>A
	ENST00000357654.9:c.2077G>A	ENST00000357654.9:p.Asp693Asn
	ENST00000461574.2:c.2077G>A	ENST00000461574.2:p.Asp693Asn
	ENST00000468300.5:c.787+1290G>A
	ENST00000470026.6:c.2077G>A	ENST00000470026.6:p.Asp693Asn
	ENST00000471181.7:c.2077G>A	ENST00000471181.7:p.Asp693Asn
	ENST00000473961.6:c.1951G>A	ENST00000473961.6:p.Asp651Asn
	ENST00000476777.6:c.2074G>A	ENST00000476777.6:p.Asp692Asn
	ENST00000477152.6:c.1999G>A	ENST00000477152.6:p.Asp667Asn
	ENST00000478531.6:c.784+1290G>A
	ENST00000484087.6:c.664+1290G>A
	ENST00000489037.2:c.1999G>A	ENST00000489037.2:p.Asp667Asn
	ENST00000491747.6:c.787+1290G>A
	ENST00000493795.5:c.1936G>A	ENST00000493795.5:p.Asp646Asn
	ENST00000493919.6:c.646+1290G>A
	ENST00000494123.6:c.2077G>A	ENST00000494123.6:p.Asp693Asn
	ENST00000497488.2:c.1189G>A	ENST00000497488.2:p.Asp397Asn
	ENST00000586385.5:c.5-29503G>A
	ENST00000591534.5:c.-43-18933G>A
	ENST00000591849.5:c.-99+31817G>A
	ENST00000618469.2:c.2077G>A	ENST00000618469.2:p.Asp693Asn
	ENST00000634433.2:c.1954G>A	ENST00000634433.2:p.Asp652Asn
	ENST00000644379.2:c.2077G>A	ENST00000644379.2:p.Asp693Asn
	ENST00000644555.2:c.646+1290G>A
	ENST00000700182.1:c.706+1290G>A
	ENST00000713676.1:c.2077G>A	ENST00000713676.1:p.Asp693Asn

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

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

Prediction

ClinVar

Clinical Significance	Benign
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	tgv57844175	TogoVar
	COSMIC	COSM4989395	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2023-11-29	criteria provided, single submitter	not provided	unknown germline	Detail
Benign	2024-02-01	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline	Detail
Benign	2015-08-10	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	germline somatic unknown	Detail
Benign	2017-11-01	criteria provided, multiple submitters, no conflicts	not specified	germline unknown	Detail
Benign	2020-01-10	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Benign	2017-02-23	criteria provided, multiple submitters, no conflicts	Familial cancer of breast	germline	Detail
Benign	2022-03-23	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1,Familial cancer of breast,Fanconi anemia, complementation group S,Pancreatic cancer, susceptibility to, 4	unknown	Detail
Benign	2022-03-23	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1,Familial cancer of breast,Fanconi anemia, complementation group S,Pancreatic cancer, susceptibility to, 4	unknown	Detail
Benign	2022-03-23	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1,Familial cancer of breast,Fanconi anemia, complementation group S,Pancreatic cancer, susceptibility to, 4	unknown	Detail
Benign	2022-03-23	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1,Familial cancer of breast,Fanconi anemia, complementation group S,Pancreatic cancer, susceptibility to, 4	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.012	Malignant neoplasm of breast	In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso...	BeFree	17764108	Detail
0.360	Malignant neoplasm of breast	In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso...	BeFree	17764108	Detail
0.011	Malignant neoplasm of breast	In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso...	BeFree	17764108	Detail
0.080	breast carcinoma	In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso...	BeFree	17764108	Detail
0.002	breast carcinoma	In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso...	BeFree	17764108	Detail
0.001	breast carcinoma	In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso...	BeFree	17764108	Detail

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) AND not specified	ClinVar	Detail
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) AND Familial cancer of breast	ClinVar	Detail
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) AND multiple conditions	ClinVar	Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu...	DisGeNET	Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu...	DisGeNET	Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu...	DisGeNET	Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu...	DisGeNET	Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu...	DisGeNET	Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu...	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: rs4986850 dbSNP
Genome: hg38
Position: chr17:43,093,454-43,093,454
Variant Type: snv
Reference Allele: C
Alternative Allele: T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): rs4986850
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 2
East Asian Heterozygous Counts (ExAC): 2
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 2.3110700254217703E-4
Chromosome Counts in All Race (ExAC): 121324
Allele Counts in All Race (ExAC): 6893
Heterozygous Counts in All Race (ExAC): 6379
Homozygous Counts in All Race (ExAC): 257
Allele Frequency in All Race (ExAC): 0.05681480993043421

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