chr17:41203080:C>G Detail (hg19) (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	chr17:41,203,080-41,203,080
hg38	chr17:43,051,063-43,051,063 View the variant detail on this assembly version.

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007298.3:c.2020G>C	NP_009229.2:p.Asp674His
	NM_007294.3:c.5332G>C	NP_009225.1:p.Asp1778His
	NM_007300.3:c.5395G>C	NP_009231.2:p.Asp1799His
	NM_007299.3:c.2020G>C	NP_009230.2:p.Gly674Arg
	NM_007297.3:c.5191G>C	NP_009228.2:p.Asp1731His
Ensemble	ENST00000476777.6:c.5326G>C	ENST00000476777.6:p.Asp1776His
	ENST00000489037.2:c.5254G>C	ENST00000489037.2:p.Asp1752His
	ENST00000591849.5:c.-98-873G>C
	ENST00000634433.2:c.5209G>C	ENST00000634433.2:p.Asp1737His
	ENST00000491747.6:c.2020G>C	ENST00000491747.6:p.Asp674His
	ENST00000470026.6:c.5332G>C	ENST00000470026.6:p.Asp1778His
	ENST00000618469.2:c.5332G>C	ENST00000618469.2:p.Asp1778His
	ENST00000586385.5:c.262G>C	ENST00000586385.5:p.Asp88His
	ENST00000644379.2:c.5398G>C	ENST00000644379.2:p.Asp1800His
	ENST00000713676.1:c.5332G>C	ENST00000713676.1:p.Asp1778His
	ENST00000461574.2:c.5329G>C	ENST00000461574.2:p.Asp1777His
	ENST00000357654.9:c.5332G>C	ENST00000357654.9:p.Asp1778His
	ENST00000497488.2:c.4444G>C	ENST00000497488.2:p.Asp1482His
	ENST00000471181.7:c.5395G>C	ENST00000471181.7:p.Asp1799His
	ENST00000591534.5:c.805G>C	ENST00000591534.5:p.Asp269His
	ENST00000493919.6:c.1882G>C	ENST00000493919.6:p.Asp628His
	ENST00000352993.7:c.1906G>C	ENST00000352993.7:p.Asp636His
	ENST00000477152.6:c.5254G>C	ENST00000477152.6:p.Asp1752His
	ENST00000644555.2:c.1882G>C	ENST00000644555.2:p.Asp628His
	ENST00000468300.5:c.2020G>C	ENST00000468300.5:p.Gly674Arg
	ENST00000473961.6:c.5206G>C	ENST00000473961.6:p.Asp1736His
	ENST00000493795.5:c.5191G>C	ENST00000493795.5:p.Asp1731His
	ENST00000478531.6:c.2020G>C	ENST00000478531.6:p.Asp674His
	ENST00000484087.6:c.1894G>C	ENST00000484087.6:p.Asp632His
	ENST00000494123.6:c.5332G>C	ENST00000494123.6:p.Asp1778His

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	Familial cancer of breast	germline	Detail
Uncertain significance	2019-01-11	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2022-01-14	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	Malignant neoplasm of breast	The rare BRCA1 UV c.5332G>A/p.Asp1778Asn was found here for the first time in...	BeFree	22684231	Detail
0.080	breast carcinoma	The rare BRCA1 UV c.5332G>A/p.Asp1778Asn was found here for the first time in...	BeFree	22684231	Detail

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.5332G>C (p.Asp1778His) AND Familial cancer of breast	ClinVar	Detail
NM_007294.4(BRCA1):c.5332G>C (p.Asp1778His) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.5332G>C (p.Asp1778His) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
The rare BRCA1 UV c.5332G>A/p.Asp1778Asn was found here for the first time in co-occurrence in tr...	DisGeNET	Detail
The rare BRCA1 UV c.5332G>A/p.Asp1778Asn was found here for the first time in co-occurrence in tr...	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: rs80357112 dbSNP
Genome: hg19
Position: chr17:41,203,080-41,203,080
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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