chr17:43063931:G>T 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	chr17:41,215,948-41,215,948 View the variant detail on this assembly version.
hg38	chr17:43,063,931-43,063,931

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.5095C>A	NP_009225.1:p.Arg1699=
	NM_007299.3:c.1783C>A	NP_009230.2:p.Arg595=
	NM_007300.3:c.5158C>A	NP_009231.2:p.Arg1720=
	NM_007298.3:c.1783C>A	NP_009229.2:p.Arg595=
	NM_007297.3:c.4954C>A	NP_009228.2:p.Arg1652=
Ensemble	ENST00000352993.7:c.1669C>A	ENST00000352993.7:p.Arg557=
	ENST00000357654.9:c.5095C>A	ENST00000357654.9:p.Arg1699=
	ENST00000461574.2:c.5092C>A	ENST00000461574.2:p.Arg1698=
	ENST00000468300.5:c.1783C>A	ENST00000468300.5:p.Arg595=
	ENST00000470026.6:c.5095C>A	ENST00000470026.6:p.Arg1699=
	ENST00000471181.7:c.5158C>A	ENST00000471181.7:p.Arg1720=
	ENST00000473961.6:c.4969C>A	ENST00000473961.6:p.Arg1657=
	ENST00000476777.6:c.5089C>A	ENST00000476777.6:p.Arg1697=
	ENST00000477152.6:c.5017C>A	ENST00000477152.6:p.Arg1673=
	ENST00000478531.6:c.1783C>A	ENST00000478531.6:p.Arg595=
	ENST00000484087.6:c.1657C>A	ENST00000484087.6:p.Arg553=
	ENST00000489037.2:c.5017C>A	ENST00000489037.2:p.Arg1673=
	ENST00000491747.6:c.1783C>A	ENST00000491747.6:p.Arg595=
	ENST00000493795.5:c.4954C>A	ENST00000493795.5:p.Arg1652=
	ENST00000493919.6:c.1645C>A	ENST00000493919.6:p.Arg549=
	ENST00000494123.6:c.5095C>A	ENST00000494123.6:p.Arg1699=
	ENST00000497488.2:c.4207C>A	ENST00000497488.2:p.Arg1403=
	ENST00000586385.5:c.25C>A	ENST00000586385.5:p.Arg9=
	ENST00000591534.5:c.568C>A	ENST00000591534.5:p.Arg190=
	ENST00000591849.5:c.-98-13741C>A
	ENST00000618469.2:c.5095C>A	ENST00000618469.2:p.Arg1699=
	ENST00000634433.2:c.4972C>A	ENST00000634433.2:p.Arg1658=
	ENST00000644379.2:c.5161C>A	ENST00000644379.2:p.Arg1721=
	ENST00000644555.2:c.1645C>A	ENST00000644555.2:p.Arg549=
	ENST00000713676.1:c.5095C>A	ENST00000713676.1:p.Arg1699=

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	Likely 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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2019-05-10	criteria provided, single submitter	not provided	germline	Detail
Likely benign	2014-08-27	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Likely benign	2017-06-29	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	germline unknown	Detail
Likely benign	2019-08-21	criteria provided, single submitter	not specified	germline	Detail
Likely benign	2023-09-26	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail
Likely benign	2023-11-16	criteria provided, single submitter	BRCA1-related disorder	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
0.080	breast carcinoma	Measures of genetic risk (report of family history, segregation) were assessed f...	BeFree	22889855	Detail
0.360	Malignant neoplasm of breast	Measures of genetic risk (report of family history, segregation) were assessed f...	BeFree	22889855	Detail
0.129	FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.5095C>A (p.Arg1699=) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.5095C>A (p.Arg1699=) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5095C>A (p.Arg1699=) AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
NM_007294.4(BRCA1):c.5095C>A (p.Arg1699=) AND not specified	ClinVar	Detail
NM_007294.4(BRCA1):c.5095C>A (p.Arg1699=) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5095C>A (p.Arg1699=) AND BRCA1-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Measures of genetic risk (report of family history, segregation) were assessed for 68 BRCA1 c.5096G&...	DisGeNET	Detail
Measures of genetic risk (report of family history, segregation) were assessed for 68 BRCA1 c.5096G&...	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: rs55770810 dbSNP
Genome: hg38
Position: chr17:43,063,931-43,063,931
Variant Type: snv
Reference Allele: G
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8594
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): 120306
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.6624274766013333E-5

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