chr17:43093184:T>C 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	chr17:41,245,201-41,245,201 View the variant detail on this assembly version.
hg38	chr17:43,093,184-43,093,184

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.2347A>G	NP_009225.1:p.Ile783Val
	NM_007299.3:c.787+1560A>G
	NM_007300.3:c.2347A>G	NP_009231.2:p.Ile783Val
	NM_007298.3:c.787+1560A>G
	NM_007297.3:c.2206A>G	NP_009228.2:p.Ile736Val
Ensemble	ENST00000352993.7:c.671-2152A>G
	ENST00000357654.9:c.2347A>G	ENST00000357654.9:p.Ile783Val
	ENST00000461574.2:c.2347A>G	ENST00000461574.2:p.Ile783Val
	ENST00000468300.5:c.787+1560A>G
	ENST00000470026.6:c.2347A>G	ENST00000470026.6:p.Ile783Val
	ENST00000471181.7:c.2347A>G	ENST00000471181.7:p.Ile783Val
	ENST00000473961.6:c.2221A>G	ENST00000473961.6:p.Ile741Val
	ENST00000476777.6:c.2344A>G	ENST00000476777.6:p.Ile782Val
	ENST00000477152.6:c.2269A>G	ENST00000477152.6:p.Ile757Val
	ENST00000478531.6:c.784+1560A>G
	ENST00000484087.6:c.664+1560A>G
	ENST00000489037.2:c.2269A>G	ENST00000489037.2:p.Ile757Val
	ENST00000491747.6:c.787+1560A>G
	ENST00000493795.5:c.2206A>G	ENST00000493795.5:p.Ile736Val
	ENST00000493919.6:c.646+1560A>G
	ENST00000494123.6:c.2347A>G	ENST00000494123.6:p.Ile783Val
	ENST00000497488.2:c.1459A>G	ENST00000497488.2:p.Ile487Val
	ENST00000586385.5:c.5-29233A>G
	ENST00000591534.5:c.-43-18663A>G
	ENST00000591849.5:c.-99+32087A>G
	ENST00000618469.2:c.2347A>G	ENST00000618469.2:p.Ile783Val
	ENST00000634433.2:c.2224A>G	ENST00000634433.2:p.Ile742Val
	ENST00000644379.2:c.2347A>G	ENST00000644379.2:p.Ile783Val
	ENST00000644555.2:c.646+1560A>G
	ENST00000700182.1:c.706+1560A>G
	ENST00000713676.1:c.2347A>G	ENST00000713676.1:p.Ile783Val

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	Conflicting classifications of pathogenicity
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	tgv229967285	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2023-03-23	criteria provided, conflicting interpretations	Breast-ovarian cancer, familial, susceptibility to, 1	germline unknown	Detail
Benign Likely benign	2023-03-23	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Likely benign	2019-10-30	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Benign		no assertion criteria provided		unknown	Detail
Likely benign	2024-01-02	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.080	breast carcinoma	Increased risk of breast cancer associated with the I655V allele was also observ...	BeFree	14569185	Detail
0.360	Malignant neoplasm of breast	Increased risk of breast cancer associated with the I655V allele was also observ...	BeFree	14569185	Detail

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val) AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val) AND Malignant tumor of breast	ClinVar	Detail
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
Increased risk of breast cancer associated with the I655V allele was also observed among BRCA1/2 mut...	DisGeNET	Detail
Increased risk of breast cancer associated with the I655V allele was also observed among BRCA1/2 mut...	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: rs80356948 dbSNP
Genome: hg38
Position: chr17:43,093,184-43,093,184
Variant Type: snv
Reference Allele: T
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8652
East Asian Allele Counts (ExAC): 10
East Asian Heterozygous Counts (ExAC): 10
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.001155802126675913
Chromosome Counts in All Race (ExAC): 121364
Allele Counts in All Race (ExAC): 10
Heterozygous Counts in All Race (ExAC): 10
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.239675686364985E-5

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