chr17:41256190:G>A Detail (hg19) (BRCA1)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr17:41,256,190-41,256,190
hg38	chr17:43,104,173-43,104,173 View the variant detail on this assembly version.

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007298.3:c.390C>T	NP_009229.2:p.Tyr130=
	NM_007299.3:c.390C>T	NP_009230.2:p.Tyr130=
	NM_007294.3:c.390C>T	NP_009225.1:p.Tyr130=
	NM_007300.3:c.390C>T	NP_009231.2:p.Tyr130=
	NM_007297.3:c.249C>T	NP_009228.2:p.Tyr83=
Ensemble	ENST00000618469.2:c.390C>T	ENST00000618469.2:p.Tyr130=
	ENST00000586385.5:c.4+21009C>T
	ENST00000491747.6:c.390C>T	ENST00000491747.6:p.Tyr130=
	ENST00000644379.2:c.390C>T	ENST00000644379.2:p.Tyr130=
	ENST00000634433.2:c.390C>T	ENST00000634433.2:p.Tyr130=
	ENST00000489037.2:c.312C>T	ENST00000489037.2:p.Tyr104=
	ENST00000700182.1:c.312C>T	ENST00000700182.1:p.Tyr104=
	ENST00000476777.6:c.390C>T	ENST00000476777.6:p.Tyr130=
	ENST00000477152.6:c.312C>T	ENST00000477152.6:p.Tyr104=
	ENST00000644555.2:c.249C>T	ENST00000644555.2:p.Tyr83=
	ENST00000468300.5:c.390C>T	ENST00000468300.5:p.Tyr130=
	ENST00000357654.9:c.390C>T	ENST00000357654.9:p.Tyr130=
	ENST00000471181.7:c.390C>T	ENST00000471181.7:p.Tyr130=
	ENST00000470026.6:c.390C>T	ENST00000470026.6:p.Tyr130=
	ENST00000713676.1:c.390C>T	ENST00000713676.1:p.Tyr130=
	ENST00000591849.5:c.-99+21098C>T
	ENST00000493795.5:c.249C>T	ENST00000493795.5:p.Tyr83=
	ENST00000478531.6:c.390C>T	ENST00000478531.6:p.Tyr130=
	ENST00000484087.6:c.390C>T	ENST00000484087.6:p.Tyr130=
	ENST00000494123.6:c.390C>T	ENST00000494123.6:p.Tyr130=
	ENST00000473961.6:c.390C>T	ENST00000473961.6:p.Tyr130=
	ENST00000493919.6:c.249C>T	ENST00000493919.6:p.Tyr83=
	ENST00000352993.7:c.390C>T	ENST00000352993.7:p.Tyr130=
	ENST00000461574.2:c.390C>T	ENST00000461574.2:p.Tyr130=
	ENST00000591534.5:c.-44+21098C>T
	ENST00000497488.2:c.-218-9313C>T

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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	COSM6447962	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2017-06-29	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	germline	Detail
Likely benign	2022-11-14	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail
Likely benign	2021-09-28	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Likely benign	2022-09-16	criteria provided, single submitter	not provided	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	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

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.390C>T (p.Tyr130=) AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
NM_007294.4(BRCA1):c.390C>T (p.Tyr130=) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.390C>T (p.Tyr130=) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.390C>T (p.Tyr130=) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	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: rs80356888 dbSNP
Genome: hg19
Position: chr17:41,256,190-41,256,190
Variant Type: snv
Reference Allele: G
Alternative Allele: A

Genome browser